# BIGPATS_DOC_STORE

CONTENT:
Ariel Adler, M.D.          RE: Susan Streicher
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  10/02/90

Dear Mr. and Mrs. Streicher,

I have been unable to reach you by phone at 508-947-8472.  The results of Samantha's chromosome studies are normal.  I have spoken to Dr. Retik and would like to schedule a pelvic ultrasound to check the uterus and ovaries.  Dr. Retik will also be contacting you.

Please call me to discuss this further as well as to schedule the ultrasound.


Sincerely yours,





Ariel Adler, M.D.
Attending in Endocrinology


CONTENT:
Attilio Hammer, M.D.          RE: Susan Streicher
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  10/02/90

Dear Dr. Hammer:

I saw Susan in the Endocrine Program on 9/8/95 for follow up of clitoromegaly.

History: As you know, we saw Samantha in the Endocrine Clinic on September 8,  1995 for her clitoromegaly.  An ACTH test that was performed previously  revealed no abnormalities in cortisol biosynthesis.  She has had no  signs of virilization and no growth spurts since we last saw her.

Current medications: None.

Physical exam:  HT: 100.4 cm    WT: 14.1 cm  Breast: Tanner I        Pubic hair: Tanner I   Clitoris is 0.8 x 1.5 cm with no posterior fusion and no  pubic hair.

Laboratory studies:  Chromosomes

Impression: Clitoromegaly of uncertain etiology.  The possibilities  include gonadodysgenesis, vanishing testes and androgen insensitivity,  all of which are very unlikely in the setting of isolated clitoromegaly.   The other possibility, of course, is that this is an isolated  abnormality.

Disposition: Today she will see Dr. Retik in the Urology Clinic and also have  her chromosomes done.  I will be getting back to you and the family  regarding the results of these studies and further work-up that may be  needed. 

Again, thank you for allowing us to share in the care of Samantha.



Sincerely,




Ariel Adler, MD           
Attending in Endocrinology   


Addendum: Samantha's chromosomes reveal a normal XX female.  I have spoken with Dr. Retik and would like to obtain a pelvic ultrasound.  We will be contacting the family.


CONTENT:
Agustin Plutarch, M.D.          RE: Bing Nasby
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  04/21/83

Dear Dr. Plutarch:

We had the pleasure of seeing Bing in the Endocrine Program on 6/22/95 for gynecomastia.

History: We apologize for the delay in getting this letter to you regarding your patient, Bing Nasby, who is 12 years and 2 months old.  Bing was noted to have gynecomastia, small testes, Tanner stage 2 pubic hair, and a hyperpigmented area of his left shoulder.  Laboratory evaluation revealed an LH=0.5 U/L, FSH = 0.8 mIU/ml, and a testosterone<20.  The family is not particularly worried about him, but have noted the gynecomastia.  He has otherwise been well.

Past medical history:  Former full term product born after a vaginal delivery.  No medical problems.

Review of systems:  Negative

Family history:  Bing has 2 brothers.  His mother is 5' 5" tall, and his father is 5' 8" tall.

Physical exam:  
Height: 154.5 cm        Weight: 49.8 kg         BP: 110/70              
Pulse: 82               U/L ratio:  0.9         Arm span: 159           
Breast: Tanner I        Pubic hair: Tanner II   Phallus length: 6 cm    
Mid-shaft diam.: 2.4 cm 
Height and weight both between the average case and 1 SD above the mean.
Well developed, well nourished
Skin:  Hyperpigmented area over the left shoulder
HEENT:  Grossly normal
Neck:  Palpable thyroid
Chest:  Clear to ausculation.  Fat in the breast area, unclear if true glandular tissue.
Cardiac:  RRR, no murmur
GU:  Testes 4 cc.

Laboratory studies:  T=7 ng/dl (normal prepubertal=<3-10, normal adult male=350-1030), Free T=1.3 pg/ml (normal prepubertal=0.15-0.6, normal adult male=52-280), Free T SHBG=0.7 mcg/dl (normal prepubertal=1.8-5.5, normal adult male=0.5-1.5), Free T %=1.7 % (normal prepubertal=0.4-0.9, normal adult male=1.5-3.2), 
Chromosome analysis:  Normal 46,XY
T4=8.5 ug/dL, TBGI=0.91,TSH=2.30 uU/mL

Impression: Bing has mild gynecomastia, borderline small testicles, and Tanner stage pubic hair.  He is growing appropriately.  He also may have a small goiter.  Most likely he has gynecomastia associated with early puberty, which is sometimes seen in puberty in boys.  His testosterone levels are in the normal prepubertal range, although his free testosterone, % free testosterone, and SHBG levels are just out of the prepubertal range.  He appears to be entering puberty.  A karyotype, done to rule out Klinefelter's syndrome, showed Bing is a normal 46XY male.  He has no clinical evidence of thyroid disease, and his thyroid functions were normal.  We would like to follow Bing to see how he progresses into puberty.  He has no evidence of gonadal failure at this point, as his LH and FSH are not elevated, and we would expect his testicles to be increasing in size over the next several months, as he enters into puberty.

Disposition: Follow up in the Endocrine Clinic in 6 months time.
Thank you for letting us share in the care of Bing.

Sincerely,


Penelope Hagen, MD              
Attending in Endocrinology


CONTENT:
Elmo Domingo, M.D.          RE: Peggy Holbein
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/08/88

Dear Dr. Domingo:

We had the pleasure of seeing Peggy in the Endocrine Program on 6/29/95 for early puberty.

History: at 7 4/12 years of age.  She had always been slightly overweight with fatty tissue and her breast was considered adipose tissue in the past.  Over the past year however, she has had tenderness and definite breast protrusion and the very earliest beginnings of pubic hair.  Her mother has noted a marked increase in growth between age 5-7 most particularly in the past year.  She reports that Peggy first reported breast tenderness approximately 3 months ago just over age 7.  Over the past year mother has noted increased vaginal secretions on her daughters underwear but no blood staining.  Your growth charts indicate a 2 inch increase in growth and a 6 lb increase in weight in four months from January to May, 1995.  She has been teased about her development and she is only entering the second grade.  She has had progression in her shoe size from 2 1/2-3 and she is developing broader hips.

Family history:  Mother is 62", father 68".  Mother had menarche at age 14.  She has six sisters all of whom had early menarche.  There is some family history of obesity and early puberty on the father's side of the family, but not in his siblings.  Parents have divorced.

Physical exam:  
Height: 129.5 cm        Weight: 37.2 kg         BP: 99/47               
Pulse: 80               U/L ratio:  1.01        Arm span: 131           
Pubic hair: Tanner II   
General: Her general appearance is of a girl approximately age 9-10.
HEENT: Her exam was entirely normal except for slight thinning of the hair on her scalp.  He dentition is early.  Fundoscopic exam is unremarkable and visual fields are normal to confrontation.  
Neck: No thyromegaly.
Chest: Left breast is Tanner II, right breast is Tanner III.  Areolae measures 3cm on the right, 2.8 on the left. 
Genitourinary: Her vulva shows estrogenization of the vaginal mucosa.

Laboratory studies:  estradiol <10 pg/ml, IGF1 222 ng/ml, prolactin 4.9 ng/ml, DHEAS 28 ug/dl, LH <1 IU/L, FSH 0.58 IU/L.   These are normal as ae thyroid function tests.  Bone age is 10 years.

Impression: Precocious puberty, probably central.  She has no cafe-au-lait spots or findings consistent with McCune Albright syndrome.

Disposition: She will probably undergo a GnRH test pending the results of the above studies and possibility an cranial MRI with contrast.  If it proves to be central precocity.  She is likely to begin to be a candidate for Lupron Depot for psychosocial reasons and I will be in touch with the mother about that soon.
Thank you for letting us share in the care of Peggy.

Sincerely,


Nilto Carter, MD             
Associate in Endocrinology


CONTENT:
, M.D.          RE: Peggy Holbein
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/08/88

Dear Chu,

Mrs. Holbein has failed to show at 2 scheduled GnRh tests at the CAT/CR.  We will
not schedule additional testing unless your office speaks with her and
does the scheduling.



Sincerely,





Nilto Carter MD


CONTENT:
, M.D.          RE: Peggy Holbein
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/08/88

Dear Mrs. Holbein,

Because you have failed to keep two scheduled diagnostic tests at the Ambulatory Test Center and have failed to keep a scheduled appointment with me in Lexington this morning I will not accept any further appointments for Peggy.


Sincerely,





Nilto Carter MD
Associate in Endocrinology

cc: Chu Chen MD, 221 Boston Post Rd, Billerica MA 01821


CONTENT:
, M.D.          RE: Peggy Holbein
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/08/88

Dear Chu,

Peggy did have a GnRH test here on 9/26/95. It is a pubertal response and a copy of the test results are enclosed.

I suggest that she have a cranial MRI for completeness, which Regina Schofield RN can schedule, and strong consideration be given for LupronDepot monthly injections to suppress this pubertal precocity.

Mrs. Holbein can reach Regina at 355-7476 to set up the MRI and to get things started for Lupron therapy.


Regards,





Nilto Carter MD
Associate in Endocrinology

cc: Mrs. Brenda Holbein, 12 Kenmar Drive, Billerica MA 01821
    Regina Schofield RN


CONTENT:
Elmo Domingo, M.D.          RE: Peggy Holbein
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/08/88

Dear Dr. Domingo:

I had a visit with Peggy on 11/21/95 for baseline exam prior to her beginning Lupron Depot therapy for precocious puberty.  She showed a positive response to GnRH and has had further progression of breast development and growth since her last visit here.

Physical exam:
HT: 132.6 cm    WT: 39.9 kg    Arm span: 133.3 cm    U/L ratio:  0.95
BP: 110/64      Pulse: 86     Breast: Tanner III   Pubic hair: Tanner II   

On physical she looks approximately age 11 and has no visual field abnormalities, normal funduscopic exam.

Impression: A routine MRI cranially is scheduled on 12/2/95 and she is to begin Lupron Depot therapy 15 mg IM monthly immediately.  She will probably be coming to your office to receive some of these injections and she will see me again in January, 1996.  I will schedule her for a following GnRH test on therapy in 2/96.



Sincerely,




Nilto Carter, MD             
Associate in Endocrinology


CONTENT:
Elmo Domingo, M.D.          RE: Peggy Holbein
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/08/88

Dear Dr. Domingo:

I was pleased to see Peggy back in follow up on 03/26/96 for reassessment of precocious puberty, for which we began GnRH analog treatment back in November of 1995.  Lupron Depot 15 mg. has been administered monthly since then, and although there has not been much regression in pubertal status, there has has not been progression either.

Physical exam:
HT: 134.5 cm    WT: 43.1 kg     Breast: Tanner III     Pubic hair: Tanner III  
She has been maintaining a normal growth rate.   There has been no menstrual flow.  She has no thyromegaly and basically everyone seems to be pleased with the absence of further pubertal progression.

Impression: To verify that the medication is working effectively, and because of her pubertal GNRH response on testing in November back before she was begun on GnRH analog, I have rescheduled her for a brief GnRH test to be done in the next month or so just prior to a dose of Lurpon.  She will remain on this dose and see me again in approximately four months.   

Thanks for allowing me to share in her care.



Sincerely,




Nilto Carter, MD             
Associate in Endocrinology   


cc: Mr. & Mrs. Guy Holbein  11 Old Boston Rd Ste 406  Tewksbury , MA  01876

    Regina Schofield, RN Division of Endocrinology


CONTENT:
Mina Kaelin, M.D.          RE: Howie Barton
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  07/31/94

Dear Dr. Kaelin:

     We had the pleasure of evaluating Howie in the Renal Program on 6/14/95 for R/O RTA.
     This now 10 month old baby boy was reviewed  when there was a fall-off in weight gain, some mild developmental delay  and serum bicarbonates checked locally were in the 14 to 15 mEq/l range.   There was no vomiting and appetite appears to be stable.

His current medications include:


Past medical history:
     No significant illness

Review of systems:
     No recent illness, diarrhea or overt change in  dietary habits.  The dietary intake may be borderline for calories on  cursory review; fuller review should be performed.

Howie's physical exam was notable for:
     BP 94/43   P 112   R    T    HT 71.6cm   WT 7.28kg
     General:  Well hydrated, cooperative, 10-month old. Head, eyes, ears, nose and  throat:  Normal limits. 
     Lymph nodes:  Not palpable.  
     Skin: Intact  
     Neck: Supple 
     Chest: Clear to auscultation. 
     Heart: Rate and rhythm regular.
     Abdomen: Soft and  nontender.  
     Genitourinary: Immature male, circumcised. 
     Extremities: No edema. 
     Neurological: No localizing  signs.
A urinalysis revealed:
     SPEC GR UA  1.004           GLUCOSE UA  Neg.       
     PH UA       7.0             RBC/HPF     0          
     BLOOD UA    Neg.            WBC/HPF     0          
     PROTEIN UA  Neg.  mg/dl     BACTERIA    Neg.  
     CASTS        Nil

Laboratory studies at this time include:
          ALB         4.2    G/DL (H)   TP          6.5   GM/DL    
          CO 2         19   MEQ/L       BUN          11   MG/DL    
          CA         10.0   MG/DL       UUN         223   MG/DL    
          CAU         2.7   MG/DL       NA          138  MMOL/L    
          CRU    NOT DONE   MG/DL       K           4.2  MMOL/L    
          CRU        11.2   MG/DL       CL          105  MMOL/L    
          CR          0.3   MG/DL       NAU          21  MMOL/L    
          GLU         103   MG/DL       KU           26  MMOL/L    
          OSMOU       180  MOSMKG       CLU          29  MMOL/L    
          PHOS        6.1   MG/DL       U PROT        4   MG/DL    
          PHOSU      25.2   MG/DL       

     Mild metabolic acidosis and a mild fall-off in growth rate.   A definate etiology has not been defined after full chemical review of serum and urine which  show a borderline anion gap elevation but no evidence for common  varieties of renal tubular acidosis.  It is possible that this is a  functional renal tubular acidosis or decreased urinary buffer excretion  in association with borderline caloric intake leading to such  limitation. 

I would suggest monitoring length and weight, together with formal  caloric review and maximizing calories.  Repeat chemistries in 3 to 4  weeks would be appropriate on maximized calories, and if there is still  a mild metabolic acidosis a trial on bicarbonate and further, more  esoteric aspects of renal tubular acidosis or metabolic acidosis could  be examined.  Urinary amino acid and organic acids are pending at this  time.

     Thank you for the opportunity to participate in Howie's care.  We would like to review him in Six months.  In the interim, we would be happy to discuss or review Howie should you or the family wish it.

               Sincerely,


               Mitsuko Khan, MD
               Director, Clinical Services


CONTENT:
Etta Piggy, M.D.          RE: Ingrid Kheraskov
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  04/29/91

Dear Dr. Piggy:

We had the pleasure of seeing Ingrid in the Endocrine Program on 7/17/95 for short stature.

History: Ingrid was seen at age 4 and 3/12 years for evaluation of short stature.  

She was initially seen at NEMC at 19 months of age for evaluation of short stature.  She was thought to have constitutional growth delay.  Since then, she has been followed by Dr. Piggy and has apparently grown normally.  Baseline lab tests, including electrolytes, urinalysis, and TFT's, were all within normal limits in 1992.  She is now referred for a re-evaluation because there has been an apparent fall off in her growth.  She has had no interim medical problems and her development has been normal.  Her parents are not overly concerned.

The NCHS growth chart shows a decline from the fifth percentile to well below the fifth over the past one year; whereas weight gain has continued to be normal.

Current medications: None.

Past medical history:  She is the product of an uncomplicated full-term pregnancy.  Birth weight was 5 lb 12 oz, length 17 3/4".  She was walking at nine months and talking in two word sentences at 1 1/2.  She was breast fed for 13 months and has always had a good appetite.  She has had frequent ear infections from age 5 months to age 2 1/2.  She has no history of injuries or hospitalizations.

Review of systems:  No skin complaints.  Currently no ear infections.  No heart or lung problems.  No abdominal pain, vomiting, or diarrhea.  She has a history of asymptomatic hemangiomas in her vaginal area.  No history of head trauma or seizures.

Family history:  She is an only child.  Mother's menarche was at age 12, and father's pubarche was around the same age.  There is a history of hyperthyroidism in her maternal grandmother.  Mother's height is 5' 3", father's height is 5' 6".

Physical exam:  
Height: 93.5 cm         Weight: 13.3 kg      Head circumference  49 cm.   
BP: 108/60              Pulse: 120              
U/L ratio:  1.1         Arm span: 90.9 cm.          
Breast: Tanner I        Pubic hair: Tanner I    
General:  Healthy looking without dysmorphic features.
Skin:  No signs of eczema, hypo/hyperpigmented lesions.  Normal texture of hair.
HEENT:  TM's are normal.  Normal mucus membranes.
Neck:  Supple; thyroid gland is palpable but soft.  No lymph nodes felt.
Chest:  CTA. 
Heart:  RRR, without murmurs.  Good pulses.
Abdomen:  Soft, without masses or hepatosplenomegaly.
Genitourinary:  No clitoromegaly. 
Extremities:  Normal.
Neurological:  Good tone with normal DTR's.

Laboratory studies : IGF-I 82 ng/mL (17-248);  Bone age: 3 years

Impression: Ingrid is a 4 year 3 month old girl with a bone age of 3 years.  Her IGF1 level of 82 ng/ml is within normal limits.  The IGFBP3 level is pending.  Her growth data, re-plotted on a Bayer & Bayley growth chart, show that she is growing and gaining in a manner consistent with the "delayed case."  The clinical picture, therefore, is consistent with constitutional growth delay on a background of familial short stature.

Disposition: She should continue to have careful measurements of growth at six month intervals to  insure no further fall off in her growth rate.  Provided growth rate remains within the normal range (>5 cm per year), no additional testing would be necessary.

Thank you for letting us share in the care of Ingrid.


Sincerely,




Fuli Meisner, MD        Bernardo Bird, MD         
Fellow in Endocrinology         Clinical Director of Endocrinology
                                Associate Professor of Pediatrics, HMS


CONTENT:
Etta Piggy, M.D.          RE: Ingrid Kheraskov
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  04/29/91

Dear Dr. Piggy

The results on IGF-BP3 are back on Ingrid Kheraskov  # 113-02-48.  The level is 1.6 mg/L, normal being 1.4-3.0. This is a good indicator of normal GH production and does not change our previous assessment and plan.


                                   


                                                __________________________

                                                Fuli Meisner, M.D.
                                                Fellow in Endocrinology


CONTENT:
Etta Piggy, M.D.          RE: Ingrid Kheraskov
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  04/29/91

Dear Dr. Piggy:

I saw Ingrid, aged 4 years 7-1/2 months, for follow-up of short stature. 

Medications:  Tri-Vi-Sol with iron daily. 

She has a good appetite and normal bowel movements.  She sleeps for approximately 10 hours and has nocturia once per night, her usual pattern.  There is no polyuria or polydipsia.  She has a normal energy level.  There currently are no complaints.

Current medications: None.

Physical exam:
HT: 95.2 cm    WT: 13.7 kg    Arm span: 92 cm    U/L ratio:  1.12
BP: 84/60               Pulse: 80        Pubic hair: Tanner I    
Mid-shaft diam.: 1 cm   
She looked well, had pink mucous membranes.  Skin was smooth and warm.  Physical exam was entirely normal.  She has a grade I-II/VI vibratory systolic ejection murmur heard loudest at the fourth left intercostal space. 

She has grown 2.2 cm in 4-1/2 months, an annualized growth velocity of 5.7 cm/year.  Her weight has increased 0.4 kg.

Impression: Her pattern of growth is consistent with constitutional growth delay.  I  reassured her parents that I have not found any pathology to account for her short stature and that constitutional growth delay is a variation of normal growth. 

I recommend continued careful monitoring of growth at yearly intervals.



Sincerely,




Bernardo Bird, MD         
Clinical Director of Endocrinology
Associate Professor of Pediatrics, HMS


CONTENT:
Larry Carter, M.D.          RE: Gene Izard
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  03/18/85

Dear Dr. Carter:

     We had the pleasure of evaluating Gene in the Renal Program on 6/28/95 for hemolytic uremic syndrome.
     Hemolytic uremic syndrome.

His current medications include:
     Folic acid T q.d.

Past medical history:
     Gene is a 10 year old boy who is admitted with an  acute onset of hemolytic uremic syndrome requiring hemodialysis for 2  weeks.  He has shown good recovery and since discharge, has had no  symptoms, and has noted a significant improvement in his energy.

Review of systems:
     No problems reported

Gene's physical exam was notable for:
     BP 120/83   P 94   R    T    HT 141.2cm   WT 36.3kg
     General: Bright and cheerful.
     Skin: No rashes
     Neck:  Supple, no masses, lymph nodes not palpable. 
     Heart: 2 beat sounds 
     Abdomen:  Soft, nontender. 
     Genitourinary: Tanner 2
     Extremities: No edema
     Neurological: Unchanged.
A urinalysis revealed:


Laboratory studies at this time include:


     Gene is doing well following a severe episode of hemolytic  uremic syndrome.  We will continue to follow him periodically in the  Renal Clinic.

     Thank you for the opportunity to participate in Gene's care.  We would like to review him in Six months.  In the interim, we would be happy to discuss or review Gene should you or the family wish it.

               Sincerely,


               Giancarlo Piggy, MD        Mitsuko Khan, MD
               Fellow, Pediatric Nephrology Director, Clinical Services


CONTENT:
Khan, M.D.          RE: Marcia Kendall
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  04/27/95

Dear Dr. Khan:

We had the pleasure of seeing Marcia in the Endocrine Program on 7/3/95 for newly diagnosed turner syndrome.

History: Marcia is a 9 week old Arabic female brought in by her mother for management of Turner syndrome.  They are from Dubai in the Middle East.  She was diagnosed by two different karyotypes done in Dubai both of which showed chromosomes of 45, XO.  She was born at term with the only complications being mild meconium aspiration and mild fetal distress which required a C-section.  She was hospitalized for approximately seven days, during which time she received antibiotics for rule out sepsis.  All cultures were negative.  She was discharged home with her mother as "a normal baby".  At home, mother (who is a dermatology fellow in Dubai) noticed Marcia had puffy hands and feet, as well as extra skin folds around her neck.  She also noticed a heart murmur.  Mother had her evaluated for the heart murmur, and obtained a chromosomal analysis.  The cardiac echo showed a severe coarctation of the aorta, as well as mild aortic stenosis.  Marcia has never appeared clinically ill, including no feeding difficulties, no cyanosis and no respiratory difficulties while on regular formula.  Other studies, also done in Dubai, included a renal sonogram which was normal, as well as TFT's, which are still pending.  All of these results were given to us by the mother.  In addition Marcia has high blood pressure with a discordance between the upper and lower extremities.  According to the mother, the BP in the arms has been documented as 118/96, and in the legs as 80/60.  Marcia is also here at Children's for repair of the coarctation of the aorta, scheduled for later this July, to be performed by Dr. Meyer.  She is also being followed by Dr. Freed in Cardiology.  

Marcia's family is here for recommendations regarding the long-term management of her Turner syndrome, especially hormonal management for growth.  She will be returning to Dubai when her surgery is completed.  She will also be undergoing surgery for a right inguinal hernia repair.

Current medications: None.

Past medical history:  Pregnancy and birth history as above.  Birth weight 3.7 kg, length 49 cm, head circumference 34 cm, Apgars 9 at one minute and 10 at five minutes.

Review of systems:  As mentioned in the history of present illness.  Also right inguinal hernia.  She has no GU anomalies or neurologic abnormalities.

Family history:  Both parents are alive and healthy.  Mother is 28 years of age, father is 42.  They have one other child who is a 19 month female; she is healthy and doing well.  She too was tested recently for Turner syndrome and had a normal karyotype.  Mother's height is 164 cm, father's height is 172 cm.

Physical exam:  
Height: 54 cm           Weight: 5 kg            Breast: Tanner I        
Pubic hair: Tanner I    
General:  she appeared alert and active.
Skin:  without lesions and well perfused.  She did have a low posterior hairline.
HEENT:  NCAT. PERL. positive red reflex bilaterally.  High arched palate, no cleft.  ears were within normal limits with no unusual deformities of the pinnae.
Neck:  no obvious webbing, but excess posterior neck skin folds.  Lymph nodes within normal limits.
Chest:  CTA.  Nipples do appear widely spaced with an inter nipple distant of 10 cm.
Heart:  RRR, normal S1,S2.  3/6 holosystolic murmur best heard at left sternal border.  pulses 3+ in UE and 1+ in LE.
Abdomen:  soft, flat, nontender, nondistended, no hepatosplenomegaly.  No masses palpable.
Genitourinary:  normal external prepubertal female genitalia.
Extremities:  very puffy hands and feet, non-pitting, non-erythamatous, non-tender.
Neurological:  within normal limits for a 2 month old infant, except mild head lag.

Laboratory studies:  Chromosomes 45,XO repeated twice (done in Dubai).

Impression: Marcia is a 9 week old Arabic girl with Turner syndrome documented by karyotype; she also has multiple cardiac anomalies requiring corrective surgery.  The family is here with concerns for her long term hormonal management, as well as confirmation of the diagnosis.  

Clinically, Marcia does exhibit many of the classical clinical signs of Turner syndrome confirmed by karyotype in Dubai and at Children's Hospital was 45,XO; renal sonogram normal; T4 8.9 5g/dl (nl 7.2-14.4), TT3 88 ng/dl (nl 65-160), TBGI 1.01  (nl 0.88-1.13), TSH 1.2 5U/ml  (nl 0.3-6.2), all within normal limits.  Hearing test was normal.

Disposition: Growth should be carefully followed by her pediatrician and/or pediatric endocrinologist in Dubai. When Marcia's growth begins to slow, treatment with growth hormone (0.05 mg/kg/day) should be started.
Thank you for letting us share in the care of Marcia.

Sincerely,


Yale Neptune, MD            Bernardo Bird, MD         
Fellow in Endocrinology      Clinical Director
Associate Professor  of Pediatrics, HMS


CONTENT:
Yale Stone, M.D.          RE: Marlene Tagore
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  03/10/87

Dear Dr. Stone:

I saw Marlene in the Endocrine Program on 7/3/95 for evaluation of premature menses.

History: Accoridng to her mother, since she was 5 years old, Marlene has had "monthly menses" lasting approximately 1-2 days.  This has been  associated with vaginal dischargewhich was "pus-like" according to her mother.   

Menses last one day, little blood, and are associated with "cramps" and acne.  No menss in the last 3-4 months.  No discharge noted in the last 3-4 months.

After the pus discharged stopped, the bleeding continued until 3 months ago.   She has yellow discharged every day.  No fevers, occasional dysuria, no abdominal pain.

One year ago, she developed breasts, pubic hair and change in character (becoming more aggressive).  She has not been seen by a primary care physician for one year.

Past medical history:  Pregnancy was complicated by maternal diabetes mellitus and increased blood pressure.   Delivery by Cesarean section.   Growth and development were normal.   She was hospitalized once for abdominal pain.  Marlene is here with two social workers, Lisa and Alyssa, who are concerned about her mental status.

Review of systems:  Mother notes constipation, occasional dysuria, no history of urinary tract infections.

Family history:  Mother is diabetic, on insulin.  Maternal grandmother has thyroid disease and has a history of diabetes mellitus.

Physical exam:  
Height: 135.7 cm        Weight: 63.6 kg         
BP: 115/70              Pulse: 72               
Breast: Tanner II       Pubic hair: Tanner II-III 
General:  Obese child in no apparent distress.
Skin:  Acanthosis, cafe-au-lait spot on right buttock.
HEENT: PEERLA, EOMI, fundi normal.
Neck:  Thyroid normal size and consistency.
Chest:  Lungs clear.
Heart:  Regular rate and rhythm, no murmur.
Abdomen:  Soft, nontender, no hepatosplenomegaly, no masses.
Genitourinary:  Large clitoris, vaginal mucosa light pink in coloration. No discharge noted. 
Neurological:   DTR 2+/4+ equal bilaterally.

Laboratory studies:  Estradiol <20.  Bone age 11-12 years at chronologic age 8 years.

Impression: The history of the child suggests both precocious puberty and adrenarchal development.  The physical exam is consistent with early breast development and pubic hair with an estrogenized vaginal mucosa.  The sequence of events in puberty are different to ascertain.  The history of menses for the last 3 years is inconsistent with physical finding unless she has a disordered pubertal development as seen in McCune Albright syndrome.

Disposition: We would do further pubertal evaluation if the estradiol and bone age obtained by you are abnormal.



Sincerely,




Ariel Adler, MD           
Attending in Endocrinology


CONTENT:
Larry Carter, M.D.          RE: Abraham Struve
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  05/23/80

Dear Dr. Carter:

We saw Abraham in the Endocrine Program on 8/17/95 for short stature.

History: Abraham is a 15 year 3 month old boy.   He has always been the smallest in his class.  He has had no change in his voice, pubic or axillary hair, elongation of his penis, or anosmia.  Abraham has been on Ritalin for 5 years for attention deficit disorder.  His performance at school is average.  He has a good appetite.  He plays  sports, both basketball and baseball.

Current medications: Ritalin 15 mg in the morning and 10 mg at noon.
Past medical history:  Abraham is the  product of a Caesarean section at Goddard Hospital.  He weighed 7 lbs  3-1/2 oz at birth.  His growth and development have been average.  His nutrition is good.  He has been hospitalized for bronchitis and ear infections at Goddard Hospital, annd at Brockton Hospital after an episode of bacteremia following a nail injury to his right thigh.   He has had myringotomy tubes for chronic ear infections.

Family history:  Mother's height is 5'1" and reached puberty at the age of 12.  Dad is 5'11" tall.  An aunt has diabetes. His younger brother is 13 years, 5'7", and has reached puberty with development of secondary sexual characteristics.

Physical exam:
HT: 145.9 cm    WT: 53.7 cm    Arm span: 147 cm    U/L ratio:  0.85
BP: 110/60              Pulse: 64               Pubic hair: Tanner I    
R. testis: 2 x 1.2 cm   L. testis: 1.8 x 1.2 cm Phallus length: 4 cm    
Mid-shaft diam.: 2 cm   
Height is on the delayed case curve.  Weight is 1 SD below the mean.  General appearance:  He has multiple scars all over his extremities (having fallen over the summer riding his  bicycle).  He has a fever blister on his lower lip.  HEENT exam: Pupils reactive to light.  Throat clear.  Mucous membranes moist.  Neck: No  thyromegaly.  No lymphadenopathy.  Chest clear to auscultation, no  evidence of murmurs.  Cor: S1 and S2 heard, no murmurs.  Abdomen: Soft, nontender, bowel sounds normal.  GU: Left testis is very small size.  Multiple scars over his lower extremities.

Laboratory studies:  T4=8.7   ug/dL, TSH=2.20   uU/mL, IGF-1=121.  BONE AGE = 13 6/12 years

Impression: This is a 15 year 3 month old male who has delayed puberty and short stature.  His bone age is delayed.  His IGF-1 is low for his age, and we would recommend a GH stimulation test to assess for for growth hormone deficiency, and a GnRH stimulation test for hypogonadism.

Disposition: Contact the family to arrange a GH and GnRH stimulation test.  Return to clinic once these tests are completed.



Sincerely,




Celeste Brabeck, M.D.            Penelope Hagen, M.D.              
Fellow in Endocrinology          Attending in Endocrinology


CONTENT:
Babs Hagen, M.D.          RE: Nicky Waterman
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  05/09/86

Dear Dr. Hagen:

We had the pleasure of seeing Prince Nicky in the Endocrine Program on 9/7/95 for obesity.

History: The patient is a 9 year old boy with mild obesity.  He has had a normal  past medical history including normal pregnancy, delivery, growth and  development.  From the nutritional standpoint, he is not on any  particular diet and tends to eat large breakfasts and lunches.  His  activity level is rather low although he does exercise from a mild to  moderate degree every day either playing soccer or jumping rope.  For  the past 6 months, he has been enrolled in an exercise program at home.   He is currently on no medications.  His review of systems is negative.

Family history:  Neither of the patient's parents is obese.  The  mother's height is 169 cm.  The father is of average height, but his  height is not known.

Physical exam:  
Height: 138 cm          Weight: 50.5 kg         
BP: 120/80              Pulse: 80               
The patient is mildly obese.  He has full  extraocular movements.  His fundi are normal.  Neck shows no signs of  thyromegaly.  He has no lymphadenopathy.  Chest is clear.  His cardiac  exam shows no murmurs or gallops.  His abdomen has no masses.

Laboratory studies:  T4 7.9 ug/dL, TBGI 0.97 and TSH 2.0 uU/mL.  Cholesterol 249 mg/dL,    HDL 32.5 mg/dL

Impression: 1.  Mild obesity.  The patient should be enrolled in a strict  diet plan as well as increase his exercise level.

2.  Hypercholesterolemia.  This is quite severe for a child of this age, and should also be addressed with agressive dietary intervention.  If no reduction in cholesterol is seen during the next year or two, the question of pharmacologic intervention should be considered.

Thank you for letting us share in the care of Prince Nicky.


Sincerely,




Bernardo Red, MD           
Chief, Division of Endocrinology


CONTENT:
Benise, M.D.          RE: Ralph Strauss
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  04/11/84

Dear Dr. Benise:

We had the pleasure of seeing Ralph in the Endocrine Program on 7/24/95 for obesity.

History: Ralph is a 11 3/12 year old boy from Egypt, brought in by his parents for evaluation of reported 20 kg weight gain over the last year.  The family is concerned about an endocrine etiology for this weight gain.   Ralph was described as of normal weight until about 1 1/2 years ago, when he developed bilateral hip pain.  He was told at that time, by his physician, to avoid physical exertion.  Coincident with the decreased activity was progressive weight increase.  Work up for the musculo-skeletal pain in Egypt included a normal MRI and bone scan.  

The family describes a generous calorie intake including 4 glasses of whole milk per day, 2 soda, fruit juice, and an appetite for chocolate.  Ralph denies any weakness, headaches, change in vision, polyuria, polydipsia, or temperature intolerance.  He continues to grow in height, though we have no past records of growth.  He has no current joint complaints.  He has recently returned from camp in Switzerland where his family described a 6 kg weight loss attributed to increased activity and distaste for the camp food.  He is on no medication.

Past medical history:  He was  born at 37 weeks by cesarean section weighing 2.3 gm. and had neonatal jaundice.  Growth and development has been normal.  Of note is a recent acute gastroenteritis in 11/94 with nausea and vomiting lasting 1 week.  He has missed 6 weeks of school for abdominal pain  and workup including ultrasound and barium enema were normal.  He was hospitalized at age 5 for pneumonia.  There is no history of surgery.

Family history:  Significant for a mother with hypothyroidism, a father with hypertension, and a maternal grandfather with obesity.  The father estimates his weight at 95 kg, and the mother's at 105-110 kg.

Physical exam:  
Height: 159.2 cm        Weight: 78.8 kg         BP: 118/74              
Pulse: 68               U/L ratio:  0.75        Arm span: 168           
Pubic hair: Tanner II   R. testis: 2.3 x 1.4 cm L. testis: 2.0 x 1.3 cm 
Phallus length: 4.8 cm  Mid-shaft diam.: 1.5 cm 
General: He is a overweight, well-appearing boy.
Skin: No acne.  Mild acanthosis nigricans present at nape of neck.
HEENT: No moon facies.
Neck: Normal thyroid.
Chest: Clear to auscultation. 
Heart: No murmurs, rubs, or gallop.
Abdomen: Normal active bowel sounds.  Obese with stretch marks bilaterally but no striae.
Genitourinary: Normal male.
Extremities: No edema. 
Neurological:  He had 2+ deep tendon reflexes bilaterally.  His visual fields were full, and his extraocular muscles were intact.

Laboratory studies:  T4 11.1 ug/dL, TSH 1.80 uU/mL,  ALKP  293 U/L, glucose  86 mg/dL, AST  25 U/L, ALT 29  U/L.  Urinalysis:  SG. 1.016, negative glucose.

Impression: Our clinical impression is idiopathic obesity, secondary to inactivity and excessive calorie intake.  Nevertheless, we have obtained several screening tests to rule out the unlikely possibility of an endocrinologic contribution  We have discussed with the Strauss's the importance of exercise and calorie restriction with the goal of maintaining current weight as he continues to grow.  Toward this end, a referral to our nutritionist was placed.  Finally, the risk of any lomg-term complications, including development of diabetes, was underscored.

Disposition: We will await the results of PM cortisol and  glycosylated hemoglobin studies.  In view of the acanthosis nigricans, Ralph should receive periodic screening for glucose intolerance.  He has appointments scheduled with a nutritionist and Orthopedics.  Follow-up is to be with his physicians in Egypt.  Please don't hesitate to call if we can be of  further assistance.
Thank you for letting us share in the care of Ralph.

Sincerely,


Gleide Crane, MD             
Fellow in Endocrinology      


Addendum: Ellen Marquessee, M.D.
Fellow in Endocrinology


CONTENT:
Hugo, M.D.          RE: Andrew Galus
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  10/07/82

Dear Dr. Hugo:

Andrew is a 12 year 11 month old boy referred for short stature and consideration of possible testosterone therapy.  

He was apparently born full-term at 6 lbs 8 oz, approximately 19 in.  According to his parent, he has always been shorter than his peers.  He has had no intercurrent illnesses and is currently in seventh grade doing well.  He is active in sports and socializes well although he has recently expressed feeling depressed about his short stature.  He denies any gastrointestinal complaints and, apparently, has a good appetite.

Current medications: None.

Past medical history:  Full term child born at 6 lbs 8 oz.  He had PE tubes placed as a child and has a left varicocele; he is scheduled for surgery in five days.

Family history:  A sister, age 15, is 4' 8".  His mother's height is 4' 10", father's height is 5' 8"; midparental height of 5' 5-1/2".  He has a paternal grandfather with adult onset diabetes mellitus.

Physical exam:
HT: 140 cm              WT: 32.5 kg   
Arm span: 140 cm        U/L ratio:  0.87
BP: 100/60              Pulse: 62               Pubic hair: Tanner I    
R. testis: 3 x 1.8 cm   L. testis: 3 x 2 cm     
Phallus length: 5.4 cm  Mid-shaft diam.: 1.9 cm 
General appearance:  he is well appearing.  Skin:  no rash.  HEENT is normal.  Neck:  there is no thyromegaly.  Lymph nodes:  there is no lymphadenopathy.  Chest is clear.  Cardiac exam:  there is no murmur or gallop.  Abdominal exam:   there is no organomegaly.  Extremities:  there is no edema.   Neurological:  intact; his motor strength is 5/5.

Laboratory studies:  Bone age done at an outside facility at a chronological age of 12 years 8 months was read at 10-11 years.  His bone age was re-read here as being 11 years 6 months.  Total T4 7.9 mcg/dl, free T4 0.9 ng/dl, TT3 142 ng/dl, TSH 2.1 miu/ml, all within normal limits.  IGF-1 level 240.8 ng/ml (normal being 202 to 957 ng/ml).  Serum FSH 3.8, LH 1.4 miu/ml, testosterone 114 ng/dl, DS 80 mcg/dl.  His electrolytes were normal:  sodium 137, potassium 4.1, bicarbonate 25; serum chemistry profile was normal.  Urinalysis showed a specific gravity of 1.020; no glucose, no ketones.  His hematocrit was 35.2%,  MCV 68.5, sed rate 6 mm/hr.  He had a normal iron level and, apparently, he has a history of alpha thalassemia, according to his laboratory records.
Bone age: 11.5 years

Impression: His growth curve (replotted on a Bayer and Bayley curve) shows a pattern consistent with constitutional growth delay.  His current genital exam is consistent with early puberty and this impression is supported by the serum LH, FSH and testosterone levels.  According to our interpretation of his bone age, his predicted adult height is approximately 65 inches, which is close to his midparental height of 65-1/2 inches.

Disposition: We do not recommend any intervention at this because he clearly has begun puberty and can be expected to show growth acceleration and progression of secondary sexual development in the months ahead.  I would advise that you monitor his pubertal progression at six monthly intervals.  I would be pleased to see him again if pubertal progression falters.


Sincerely,






Ellen Marquessee, MD                Bernardo Bird, MD         
Fellow in Endocrinology             Clinical Director of Endocrinology
                                    Associate Professor of Pediatrics, HMS


CONTENT:
Saurabh Gorby, M.D.          RE: Howard Roethke
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  02/02/93

Dear Dr. Gorby:

We saw Howard in the Endocrine Program on 10/9/95 for evaluation of slow growth.

History: Howard is a 32 month old male with a question of poor growth.  The mother reports that he has always been small since birth but that concerns were raised at 2-1/2 years of age when he apparently fell off his height curve.  The mother brings in the growth chart which shows that at birth he was 5th percentile length and weight, at 9 months he went from 5th percentile to below the graph.  His head circumference has always remained in the approximate 50th percentile by history.

He has one soft stool a day without blood or mucous.  He wets four diapers a day.  There has been no recent change in either of these functions.  His feeding history is that he was breastfed for two weeks and then changed to Enfamil with iron which he stayed on for 14 months.  Of note, mother states that she did not change him to regular milk at 12 months because she felt that he was small and would benefit from two additional months of Enfamil.  She refers to Howard as a picky eater; however he does eat a varied diet.  In the morning he will  have milk and cereal, at lunch he will eat a half sandwich and soup.  For snack he will have apples, cookies or fruit roll, and dinner might include 1-4 oz of meat and a vegetable.  He is taken care of during the day in his aunt's home with three other children.

Current medications: multi-vitamins and fluoride.  He has no known drug allergies, however he does have a history of food allergies, particularly to tomatoes to which he develops hives.  His immunizations are up-to-date.

Past medical history is notable for being born to a then 28 year old G3 P1 by uncomplicated pregnancy.  Her prenatal scans were negative and she had no illnesses during her pregnancy.  He was delivered approximately two weeks early at 38 weeks gestation because of "placental breakdown" per the mother.  She had a vaginal delivery and Howard's birth weight was 5 lb 4 oz with a length of 19".  He was home on day of life 2 without any further complications.   

He has had no hospitalizations or surgeries.  His history include sensitive skin with frequent hives in the diaper area.  He has had two viral infections including roseola.  He has a history of multiple  otitides that previously occurred every 3-4 months however he has not had a recent ear infection.  He also has a history of strep throat.

Family history:  Family history is negative.  There is no family history of gastrointestinal disease, cystic fibrosis, endocrine disease or thyroid disease.  

He is an only child.  Mother reports that on her side of family that people tend to be very short.  On the father's side of the family there are also many short people.  Mother's height is estimated at 4'11-1/2", father's height is 5'8".  A calculated mid parental height is 66" or 5'6".

Physical exam:
Hy: 84.5 cm    Wt: 10.9 kg   HC: 47 cm
BP: 90/60               Pulse: 100              Pubic hair: Tanner I    
R. testis: 1.9 x 1 cm   L. testis: 1.8 x 0.9 cm Phallus length: 5.2 cm  
Mid-shaft diam.: 1.4 cm 
In general, he is  alert in no apparent distress. Skin exam is notable for scattered erythematous papules in the diaper area.  His HEENT is normal.  His pupils equal, round and reactive.  His extraocular movements are intact.  His sclera are white with bilateral red reflexes.  His tympanic membranes are gray and mobile. His oropharynx is without lesions, exudate or erythema.  His neck is supple without significant lymphadenopathy.  His chest exam is clear to ausculation.  On heart exam he has a regular rate and rhythm without a murmur.  Abdomen: bowel sounds present, soft, nontender, nondistended with no hepatosplenomegaly or masses.  On genitourinary exam he has a normal external male with testes down bilaterally.  His anus is normal except for the rash noted above.  On extremity exam he has no clubbing, cyanosis or edema. Neuro:  he is active, alert, talkative. His reflexes are 2+ throughout.  He has normal tone with toes downgoing bilaterally and normal gait.

Laboratory studies:  In mid August labs were done that included a white count of 8.2, hematocrit 3.6, platelet 278 with a differential of 22 polys, 63 lymphs, 7 monos, a BUN of 7, a creatinine of 0.4, somatomedin C of 53 ng/dl, a bone age of 2 years at the biological age of 2 years six months.

On this visit:  urine:   pH 8.0,   blood - negative, ketones - negative, protein - negative, glucose -negative, nitrite - negative, WBC enzymes - negative, bili 0.2, spec. gravity 1.022.  ESR 12 MM/HR.   TBGI   0 .77,  T4  11.4 ug/dL,  TT3  209  ng/dL, TSH 3.00 uU/mL.

Impression: This is a 32 month old male with short stature and weight.  The patient is proportional with normal mental development.  A complete blood count, BUN and creatinine, bone age and somatomedin C were within normal limits. Of note, there is a strong family history of short stature.  We believe that his is most likely familial rather than secondary to a hormonal deficiency.  The screening tests done also do not support a pathological cause of short stature.

Disposition: We would like to see Howard back in our clinic in one year to monitor his growth.  Thank you very much for allowing us to participate in 


Sincerely,




Thilo Beaker, MD             Lancelot Blue, MD             
Resident in Pedatrics             Attending in Endocrinology   

cc:  Mr. and Mrs. Roethke  15 Manson Street   Brockton, MA  02402


CONTENT:
Mireille Romanov, M.D.          RE: Andrew Duchamp
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  07/12/94

Dear Dr. Romanov:

I saw Andrew in the Endocrine Program on 10/19/95 for short stature.

Andrew was a 6 lb. 10 oz. product of a 37 week gestation complicated by history of premature labor for which terbutaline had been used for approximately two months and he was delivered by normal spontaneous vaginal delivery at 6 lb. 10 oz. at 37 weeks gestation.  He was breastfed until 14 months of age.  He is now 15 months of age and he was not on formula supplements until approximately age 12 months when  whole milk was added.  He has not been a particularly great eater, now consumes approximately 16 oz. of whole milk a day, some baby foods, granola fruit bars, plums, apricots and peaches but not much milk or cereal.   

His growth chart is remarkable in that he appears to have had fairly profound flattening of his weight curve from age 6-14 months and his growth curve fell below the 5th percentile as of age 10 months with a more recent bump-up in growth over the last couple of months.  He also shows the first rise in weight since age seven months, between 14-15 months, at least by our scale today.  He had previously been somewhat constipated, is not now.

Current medications: None.

Family history:  Family history is significant for short stature in some of the grandparent generation.  The paternal grandmother is Panamanian, is 62", paternal grandfather is 67", he is of English ancestry.  Maternal grandmother is Japanese from Hawaii and is 64", maternal grandfather is West European and is 73".  The maternal great grandparents are quite short.  Mother is 67", father is 68-1/2".  Andrew has a sister who is in the 50th percentile.

Physical exam:
Ht: 73.5 cm    Wt: 9.05 kg    Arm span: 71 cm    U/L ratio:  1.41
BP: 82/39               Pulse: 53               Breast: Tanner I        
Pubic hair: Tanner I    R. testis: 2 x 1 cm     L. testis: 2 x 1 cm     
Phallus length: 5.5 cm  Mid-shaft diam.: 1.2 cm 
His bone age is pending.  He is robust, chubby, has no palpable thyroid tissue, no lymphadenopathy, no cardiac murmurs, no abdominal masses, no dysmorphic features, normal genital.

Impression: I believe this is most probably a combination of either genetic short stature or some growth fall off secondary to the associated fall off in weight that occurred from 6-14 months of age.  Whether this is a reflection of reduced caloric intake during that time is hard for me to be sure, but he seems to be gaining some weight now.  I have done a bone age, IgF1, IgF binding protein 3, growth hormone, calcium phosphorous and thyroid function tests and would like to see him again in six months.  If he seems to be  falling further off the curve, please let me know.

Disposition: Mrs. Duchamp wanted to know if I knew whether terbutaline could impact on growth of the infant.  I have looked up the literature on this and have found no evidence of decreased growth or weight in children born to mothers who had taken terbutaline to suppress premature labor.



Sincerely,




Nilto Carter, MD             
Associate in Endocrinology   


Addendum: Labs:  growth hormone 0.9 ng/ml (low, but unstimulated).  IGF-1, IGF BP3 are pending.  TSH 2 ug/ml, T4 9.4 ug/dl, TBGI 1.01, CA 9.4 mg/dl, P 4.7 mg/dl, all normal.


cc: Mrs. Dennis Duchamp 31 Nylander Way  Acton, MA  01720


CONTENT:
Mireille Romanov, M.D.          RE: Andrew Duchamp
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  07/12/94

Dear Dr. Romanov:

I had the pleasure of seeing Mrs. Duchamp and Andrew again in follow up consultation for issues related to Andrew's growth at Andrew's chronological age of 20 months on 3/21/96.   

When I had last seen him on 10/19/95 I had an IGF-1 and IGF BP3 which were on the low side for his age with the IGF1 = 28 ng/ml and the IGF BP3 = 1.2 mg/L.   

I am pleased with the progress of his caloric accumulation so that he is gaining weight appropriately.  He has not however gotten back up to even the 5th percentile on the recumbent length charts and may be moving a little further from the chart since his last visit here five months ago.   

His motor and social and cognitive development are absolutely perfect.  He is on no medications and he is having no constipation or signs of hypothyroidism or hypometabolism.

Current medications: None.

Physical exam:
HT: 76.2 cm    Length: 76.5 cm    WT: 10.35 kg    HC: 48 cm
Pulse: 96               Phallus length: 5 cm    Mid-shaft diam.: 1.6 cm 
He has no palpable breast tissue or pubic hair.   Both testes are normal size and palpable within the scrotum.

Impression: At this point I think it is important to raise the possibility that he could be growth hormone insufficient.  The former IgF1 and IgBP3 could have been affected by nutritional issues that had been present somewhat earlier in life but I am repeating them today.  I also want to see him again in six months and if he is moving in growth that is below the 5th centile and not paralleling the normal growth velocity, then I may give strong consideration to having him come into the Ambulatory Testing Center at Children's for more intensive testing for growth hormone production.

I have explained this in some detail to Mrs. Duchamp who is scheduled to deliver her third child in May. 

I look forward to seeing Andrew again in September.



Sincerely,




Nilto Carter, MD             
Associate in Endocrinology   


Addendum: IGF-1 34 ng/ml (low)


cc: Mr. & Mrs. Dennis Duchamp 31 Nylander Way  Acton, MA  01720


CONTENT:
Mireille Romanov, M.D.          RE: Andrew Duchamp
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  07/12/94

Dear Dr. Romanov:

I was really quite pleased to see Andrew in follow-up at nearly 26 months of age.  I had been concerned about his rate of growth but am pleased to report that with careful measurements (both supine length and standing height), he has had a fairly remarkable rate of growth accumulation over the past 5 and 1/2 months.

Physical exam: HT: 80.1 cm    Length: 82.2 cm    WT: 11.2 kg
In terms of standing height, that is an increment of nearly 4 cm since March which comes to an annualized growth velocity of nearly 10 cm per year!  It would be extremely unusual for any growth hormone deficiency to allow for this rate of  velocity.

I looked at his bone age and it is about 9 months delayed and I read it as 15 month.

Impression: What we may well be dealing with here is constitutional bone age delay which could allow Andrew to reach a higher ultimate height than we would predict based on his current status on the growth charts.

Disposition: I would like to see him again in 6 months but will not schedule any additional laboratory testing or even formal growth hormone testing at this time.



Sincerely,




Nilto Carter, MD             
Associate in Endocrinology   


cc:  Dennis Duchamp   31 Nylander Way   Acton , MA  01720


CONTENT:
Errol Matlock, M.D.          RE: Catherine Comstock
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  09/21/94

Dear Dr. Matlock:

We saw Catherine in the Endocrine Program on 10/3/95 for GSD.

History: Catherine is a 12 month old girl with type Ia glycogen storage disease . She was brought by her parents for a second opinion concerning the management of her disorder.

Catherine was the product of a full-term uncomplicated pregnancy; delivery was vaginal.  Her birth weight was 9 lb. 11 oz and length was 21".  A routine blood glucose measurement was low and led to her admission to an intensive care nursery.  She did not have symptoms of hypoglycemia.  In the ICU, she was treated with intravenous dextrose and oral feeds but problems were encountered attempting to wean her off parenteral fluids.  After seven days in the ICU, a  glucagon stimulation test was done; we don't have the results that were reported to be abnormal.  On day 7, a liver biopsy was performed and sent to Dr. Chen's laboratory at Duke University.  The results were consistent with GSD type Ia, with extremely low glucose-6-phosphatase activity but normal glycogen content, debrancher enzyme and phosphorylase activity.

Catherine was discharged at 17 days  on a regimen of q2-3 hour feeds with Prosobee formula.  She never had clinical symptoms of hypoglycemia although she had a few very low glucose measurements in the hospital.  At age six months, an attempt was made to add cornstarch to her diet; this resulted in vomiting and diarrhea.  A repeat attempt was successful at age 8 months.  After having relied on nasogastric feeds, a G-tube was placed at age11 months.   

Since Catherine started teething she has had minimal interest in eating and dreinking and currently only takes sips of water or tea.   

Her blood glucose levels at home are usually in the range 50-60 mg/dl;  occasional readings are in the 40s.  She sleeps through the night.  During the day, she is with her mother or member of the extended family and attends a play group once a week.  She is developmentally normal.   

Her current feeding regimen consists of Prosobee (20 calories per oz.) via a pump through a G-tube for 13 hours, 9 pm to 10am at 40 cc/hour; during the day she takes 3 oz of Prosobee mixed with 48 gm of corn starch every 2.5-3 hours, usually five feeds during the day.  This gives her a total carbohydrate load of 2.7 gm/hour at night, and 21 gm/hour during the day and a total caloric intake of 1,828 calories or 150 calories/kg/day.  The calculated glucose production rate for a child her weight is 5.1 gm/hour.

Current medications: Multivitamin with fluoride.  Lorabid for a current ear infection.  She is off iron supplements.

Past medical history:  Her growth has been around the 95th percentile for length and for weight except for a period from 3-6 months during which she obviously was overfed and markedly exceeded the 95th percentile.  Her development has been normal and she is starting to walk.  She has had frequent ear infections but no other severe infectious disorders and her shots are up-to-date.  She has only been hospitalized for her G-tube placement.

Review of systems:  There are no reported skin problems.  She has no cardiorespiratory problems, she has one documented urinary tract infection which was mild and did not prompt further work-up, her stools are soft and yellowish, no blood.  She has 6-7 bowel movements a day.   No history of seizures.

Family history:  There is no family history of GSD.  There is a history of hyperthyroidism in her maternal grandmother.  Mother's height is  5' 8", father's height is 6'.

Physical exam:
Length: 78.5 cm    WT: 12 kg   HC: 46.5 cm
Breast: Tanner I        Pubic hair: Tanner I    
Healthy looking, chubby, non-dysmorphic, happy child but uncooperative for examination.  Head circumference is in the 75th percentile.  She has no abnormal skin findings.  Her TMs were not visualized but she has normal moist mucous membranes and normal dentition, total of 9 primary teeth. Neck: supple without thyromegaly.  She has no palpable lymph nodes and chest was clear to ausculation.   Heart:  regular rate and rhythm, no murmurs.  Her abdomen is soft, nondistended and a firm liver edge can be palpated 1 cm. below the right costal margin.  No organomegaly.  Genitalia were normal.  Extremities were normal.  She has good tone and is almost walking.

Laboratory studies:  Prior labs from 9/14/94 showed normal liver function tests and a hematocrit of 34.8%.  On day 3 of life she had a lactate of 83.6 mg/dl but since has been 20-30 mg/dl.
Liver BX results:  glycogen content 3.7 %, control 2.3%; G-6-Pase: 0.2 microm/min/g, control 1.5; debranching enzyme activity 0.15 microm/min/g, control 0.22; active phosphorylase activity 1.0 microm/min/g, control 0.05.

Impression: One year old girl with type Ia GSD and severe oral aversion.  She is growing and developing normally.  We are mainly looking at three problems: 
1.  inadequate provision of glucose at night; 2.  excessive glucose during the day; 3. her protein and fat intake is continuous around-the-clock which may account for her lack of appetite and interest in feeding.

Disposition: We offered to arrange for a short admission to the hospital for 2-3 days to adjust her feeding schedule in an effort to optimize her therapy while monitoring her response.  At the same time, the dietitian will provide intensive dietary counseling.   

We advised her parents to continue to provide 40 cc/hour of Prosobee at night but to change the daily feeds to 4 oz of Prosobee with 25 gm of cornstarch every 3-4 hours.



Sincerely,




Fuli Meisner, MD       Bernardo Bird, MD         
Fellow in Endocrinology        Clinical Director of Endocrinology
                               Associate Professor of Pediatrics, HMS



cc:  Dr. Markouizos  30/16 30th Drive  Astoria, NY  11102 

     Mr. and Mrs. Comstock  38-07 34th Avenue  Astoria, NY 11101


CONTENT:
Marnie Beaker, M.D.          RE: Catherine Comstock
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  09/21/94

Dear Dr. Beaker:

We saw Catherine in the Endocrine Program on 3/18/96 for GSD.

History: Catherine is 18 months old.  Since her admission to Children's Hospital in 12/95 when we monitered her biochemical parameters for 48 hours and changed her feeding regimen, she has been doing well and has had no severe hypoglycemic episodes except during a recent episode of gastroenteritis.  This started with vomiting; blood sugar was 10mg/dL at home, Catherine was conscious but sleepy at that time.  She stayed one week in the hospital where the staff had difficulties weaning her off IV fluids.  She is now back to her normal state and feeding regimen.   

Her dietary regimen consists of 5 oz Prosobee and 25 g uncooked corn starch at 11 am, 3 pm and 7 pm, giving her 8.1 gm an hour of carbohydrate; and she receives 4 oz Prosobee and 23 gm of uncooked cornstarch at 11 pm, 3 am and 7 am, providing 7.2 gm of glucose per hour.  Those feeds are all given via her G-tube and are well tolerated.  

Parents have only detected low blood sugars in the afternoon when she does not take a nap and is unusually active.  Parents are not monitoring her daily, onlly when she appear symptomatic.   

Her oral aversion is only slightly improved, but her parents are diligent in stimulating her with hard foods but she is still not swallowing on her own.  The feeding team was consulted during her admission but felt that no further intervention was needed at this point.   

Catherine's growth has been good during this time period; she still is moderately overweight.  Psychomotor development is normal for age. 

Her calculated hepatic glucose production rate is 5.6 gm/hour based on her current height and weight.

Current medications: Fer-In-Sol 1 cc q.d., 400 mg calcium citrate, and multi-vitamins.

Physical exam:
HT: 84.5 cm         WT: 13.7 kg
Breast: Tanner I        
Catherine continues to be very uncooperative and scared during her physical exams but she looks healthy and is active.  She has no skin lesions and her G-tube site looked clean.  The thyroid exam is normal and she has moist mucous membranes.  Lungs were clear to ausculation and her cardiac exam was normal.  On abdominal exam the liver edge was felt 3-4 cm below the right costal margin but this was hard to evaluate as she was not cooperative.   Her external genitalia were normal female and she had a normal neurological examination.

Laboratory studies: Plasma glucose 116, uric acid 6.1, total cholesterol 179, triglyceride 263 mg/dL; total CO2 24 mEq/L; hematocrit 37.6%, hemoglobin 12.5 g/dL, MCV 77.5 FL, MCH  25.8 pg, MCHC 33.3 g/dL, WBC 13.52 K/MM3,platelets 431 K/MM3.

Impression: Catherine is an18 month old girl with GSD type Ia in good metabolic control; she has shown normal psychomotor development and is growing well.  She is moderately overweight.  Her major problem is oral aversion.

Today, she was also evaluated by a nutritionist; her total calorie consumption was estimated to be 80 calories/kg/day with an acceptable amount of protein, fat and minerals.

Disposition: We made no changes in her feeding regimen, but would like to see Catherine for follow up in 3-4 months.  At that time we would consider re-evaluation by the feeding team if she shows no improvement in her eating behavior.


Sincerely,






Fuli Meisner, MD     Bernardo Bird, MD         
Fellow in Endocrinology      Clinical Director of Endocrinology
                             Associate Professor of Pediatrics, HMS


CONTENT:
Marnie Beaker, M.D.          RE: Catherine Comstock
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  09/21/94

Dear Dr. Beaker:

We saw Catherine in the Endocrine Program on 8/12/96 for glycogen storage disease.

History: Catherine is 23 months old.  Since we last saw her in March, 1996, she has been admitted once to a local hospital with dehydration secondary to a viral illness.  She stayed in the hospital for three days with vomiting and diarrhea, but did not have severe hypoglycemia during this illness.  With only minor adjustments in her feeding regimen, she has been doing very well and her parents are satisfied with her blood glucose control.   

Her feeding regimen is as follows:  7:00 a.m. 4 ounces Prosobee with 23 gm cornstarch, 11:00 a.m. 5 ounces of Prosobee with 25 gm uncooked corn starch, 3:00 p.m. 6 ounces Prosobee with 25 gm cornstarch, 7:00 p.m. 5 ounces Prosobee with 25 gm of uncooked cornstarch, 11:00 p.m. 4  ounces of Prosobee with 25 gm cornstarch and 3:00 a.m. 4 ounces  Prosobee with 23 gm of cornstarch.  This gives her a total of 8 gm per hour of glucose during the day time and 7.4 gm per hour at night.  Her calculated basal  glucose production rate is approximately 6.2 gm/hour.   

Her parents intermittently monitor blood sugar levels; most are in the  60 to 80 mg/dL range but occasional values, especially at 3:00 p.m. and 7:00  p.m., are in the mid to high 50's mg/dl.  She has  never had low blood sugars at night or early in the morning.   

Catherine's development is progressing nicely.  Her speech is developing in  both English and Greek and her motor development is normal.  

Catherine's bowel movements are regular once or twice a day, usually normal  in consistency, but sometimes pasty.  She has no skin problems and her  G-tube has been functioning well.   

The oral aversion is also improving slowly.  She will play with food and  she will chew on some bread and actually swallow small pieces.   

Nutritional evaluation today shows a total caloric intake of 1,108  kcalories a day with 560 kcalories from Prosobee, the rest from  uncooked cornstarch.   

Catherine's growth continues in the 75th to 90th  percentile in length and she continues to be moderately overweight, above the 95th percentile.

Current medications: Fer-in-Sol 1 cc qday, Bugs Bunny sugar-free complete vitamins 1/2 tablet a day, and 400 mg of calcium citrate supplements per day.

Physical exam:
HT: 89.5 cm    WT: 15.1 kg

Catherine is more cooperative than before, but still hard to examine.  Her gait is normal and she is a very happy and active child with moist mucous membranes.  Her neck exam is normal and her chest is clear to ausculatation.  Her abdomen is soft with a liver palpable 4 cm below the right costal margin and no spleen palpable.   Genitalia are normal and prepubertal.

Laboratory studies: Plasma glucose 92 mg/dL, blood lactate 3.5 mmol/L, cholesterol 201, triglyceride 304, uric acid 6.6 mg/dL; TCO2 27 mmol/L; hemoglobin 13.2 g/dL, hematocrit 37.9% MCV 77.7, MCH 27.0 pg, MCHC 34.8 g/dL, WBC 12.07 K/mm3, platelets 417 K/mm3.  Hand X-ray showed moderate osteopenia.

Bone age: 2.5 years

Impression: Almost 2 year old girl with type 1 glycogen storage disease in good metabolic control showing normal growth and development.  She has a mildly elevated blood lactate and serum uric acid levels, which are in the same range as they where during her hospital admission.   Bone age is minimally advanced, but is within the 95% confidence intervals for her age.  The  osteopenia should be followed-up.   Too aggressive calcium supplements can cause problems with nephrocalcinosis.  It is reassuring that she shows no biochemical evidence of acidosis.

Disposition: We made no changes in her feeding regimen today, hoping that her appetite would pick up as she outgrows her current dose.  We would like to see her again in follow-up in clinic in another six months and at that time make a decision concerning the need for more detailed and comprehensive evaluation of her feeding regimen and biochemical control throughout the day and night.  If so, this will require an in-patient admission for 24 hour metabolic monitoring.


Sincerely,






Fuli Meisner, MD     Bernardo Bird, MD         
Fellow in Endocrinology      Clinical Director of Endocrinology
                             Associate Professor of Pediatrics, HMS           

cc: Anna Comstock   38-07 34th Ave   Astoria, NY  11101


CONTENT:
Hammer, M.D.          RE: Whitney Macaulay
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  08/17/88

Dear Dr. O'Hammer:

We saw Whitney in the Endocrine Program on 10/30/95 for premature adrenarche.

History: Whitney is a 7 year-old Greek origin female with no significant past medical history who presents to clinic secondary to pubic hair and underarm hair development.  Pubic hair development has been for the past 4-6 months and underarm hair development occurring for the past year.  Patient had no history of hirsutism, no family history of early sexual development, no history of any breast development.  Mom said that pubic hair development has increased over the past month but no change in body odor has been noted.  Whitney has no history of medication use, no history of hirsutism.  Mom stated that patient had mild pimple development in the past 3 years.  The only noted behavioral change is shyness.  There is no history of short stature, excessive weight gain or weight loss.  No history of voice change.

Current medications: None.

Past medical history:  Has no history of any hospitalizations.  

Social history:  Significant for an athletic female involved in soccer, swimming and baseball.

Review of systems:  Noncontributory.

Family history:  Significant for a maternal grandmother with diabetes insulin dependent and a strong family history of thyroid problems on her mother's side.

Patient lives with a 27 year-old mother and has a 4 and 1/2 year-old sister who has seasonal allergic rhinitis.  Mother's height is 5'2", father's height 6'2".

Physical exam:
Ht: 125.3 cm    Wt: 31.6 kg
BP: 90/60       Breast: Tanner I        Pubic hair: Tanner II   
General appearance:  alert, active, in no acute distress.  Skin with 3 cafe-au-lait spots on the left gluteal area and left lower back.  HEENT exam was grossly normal.  Neck was supple with no evidence of thyromegaly.  Lungs were clear to auscultation.  Breasts:  there was no evidence of any breast development.  Underarm was noted to have black long curly hair with with mild odor.  Heart:  S1, S2 with regular rate and rhythm, no murmur heard.  Abdomen was soft with good bowel sounds, no hepatosplenomegaly, no masses felt on palpation.  GU exam:  no clitoromegaly, 5 long, black curly hairs present, vaginal mucosa mildly estrogenized.   Neurologic exam was within normal.

Impression: This is a 7 and 1/2 year old female of Greek origin with early pubic and underarm hair development, but  no breast development.  Curiously, vaginal mucosa shows some estrogen effect, and estradiol level from your work-up was above pre-pubertal values (26 pg/ml).  Therefore, our differential diagnosis is premature adrenarche vs. true precocious puberty.  To establish a diagnosis we have arranged endocrine stimulation testing (ACTH and GnRH), along with a pelvic ultrasound and bone age.  Follow up is recommended for 4 months.



Sincerely,




Marguerite Simpson, MD        Gleide Crane, MD, PhD            
Resident in Pediatrics        Attending in Endocrinology


CONTENT:
Animal, M.D.          RE: Carrie Keynes
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  06/13/89

Dear Dr. Animal:

We saw Carrie in the Endocrine Program on 10/26/95 for premature adrenarche.

History: As you well know, Carrie is a 6 year, 4 month old Hispanic female who was referred for evaluation of axillary hair growth and development of an underarm odor over the past year.  Her mother also notes that she has had increasing pubic hair.  Carrie's mother notes that the pubic hair has significantly thickened in the last 6 months.  The patient's mother notes no acne or behavioral changes, and she has not experienced vaginal bleeding.

Current medications: Her mother gives her iron containing liquid to  build up her strength.  The patient has no known drug allergies.

Past medical history:  Her past medical history is unremarkable, except for a neck injury which she experienced in a rear end motor vehicle accident in 05/95.  The patient apparently was evaluated at a hospital and was cleared in terms of orthopaedic and neurologic injury.  The patient was the product of a pregnancy complicated by hyperemesis gravidarum.  She was 5 lbs at birth and was delivered by vaginal route in Honduras.  Carrie had normal growth and development in her early childhood and had normal childhood  infectious processes.  She has never been hospitalized and has undergone no surgical procedures.

Review of systems:  On review of systems, the patient's mother noted occasional yellow vaginal discharge but no bleeding.

Family history:  The family is from Honduras.  Her father was barely known to her mother, but she recalls that he was approximately 6 years older than she was and measured approximately 5'6" tall.  The mother's height is 5'2".

Physical exam:
HT: 112 cm    WT: 120.8 kg    Arm span: 116 cm    U/L ratio:  1
BP: 92/62               Pulse: 70               Breast: Tanner I        
Pubic hair: Tanner III  
Carrie was a well appearing, pleasant, friendly young  Hispanic female in no apparent distress.  Her skin was without lesions.  Her HEENT exam was unremarkable, with normal ocular exam.  Her nose was without discharge.  She had significant cerumen in her right ear; however, the left tympanic membrane was without abnormality.  There was no thyromegaly.  The axillary and cervical as well as inguinal lymph nodes were not palpable.  Her chest was clear to auscultation.  Her heart demonstrated a regular rhythm without a murmur.  Her abdomen was soft, nontender, and there were no palpable masses.  She  demonstrated normal female genitalia, without evidence of estrogenized vulva, and there was no clitoromegaly.  Her extremity exam was unremarkable, and she had a normal neurological exam.

Impression: Carrie is a 6 year, 4 month old Hispanic female who is noted to have increasing axillary and pubic hair with body odor for the past year.  Her physical exam demonstrates Tanner III pubic hair without evidence of thelarche or hyperestrogen effects.  A differential diagnosis at this point includes premature adrenarche, congenital adrenal hyperplasia, adrenal or ovarian mass.  Given that the patient has a rather indolent course at this point, tumor is unlikely.  We will schedule an ACTH stimulation test to rule out the diagnosis of congenital adrenal hyperplasia.

Disposition: After the patient undergoes her ACTH stim test, she will be return to clinic for follow up, and we will report these results to you as soon as they are available.  Again, thank you very much for this interesting consult, and please let us know if we can be of any help in the future.



Sincerely,




Douglas Austin, MD             Rahul Ibsen, MD                
Fellow in Endocrinology        Attending in Endocrinology   


cc:  Douglas Austin, M.D.  Brigham and Women's Hospital 
     75 Francis Street  Boston, MA 02115


CONTENT:
Herman DeNiro, M.D.          RE: Todd Sinclair
123 Santa Clause Lane                                   CH# XX XX XX
Death Valley, CA  90210                                 DOB:  12/14/93

Dear Dr. DeNiro:

I saw Todd in the Endocrine Program on 11/30/95 for growth evaluation.

History: As you are well aware, this youngster has mixed gonadal dysgenesis with a 45X/46X dicentric Y karyotype.  He was born with hypospadias and chordee, and a right undescended testes.  He was subsequently found to have the abnormal karyotype and a streaked gonad on the right side.  The left testes was apparently normal, but was disconnected from the vas deferens.  He has had slow growth since the beginning.  His evaluation has included a Nutrition consult and a battery of tests done by a gastroenterologist, which were reportedly normal.  His stools have always been loose and several times a day.  He has been a picky eater and only gets in about 12 ounces of milk a day.  He was taken off milk briefly, but no difference in his stools was noted. He is more often ill with upper respiratory tract infections than his brothers, and commonly has green coryza.  He is known through these evaluations to have an IgA and IgE deficiency.

Current medications: None.

Past medical history:  His pregnancy history reveals that his mother was sick throughout the pregnancy, and on Phenergan.  He delivered 2 weeks early, lighter by about 1-1/2 lbs. than his siblings.  He is not yet potty trained.  He says a few single words at this time, and walked only at 14 months.  He has been hospitalized for pneumonia and the surgeries as noted above.  He has had ventilation tubes placed for recurrent ear infections.  There are no known visual problems, no skin problems, no cardiac problems.  Everything else is as noted.

Family history:  The family history is positive for autism in a paternal first cousin and dyslexia in maternal uncles.  He has 2 older brothers, age 6 and 4, who are said to be average in height.  His mother is 4 feet 11 inches, and his father 5 feet 10 inches.

Physical exam:
HT: 78.8 cm             WT: 9.4 kg
BP: 123/65              Pulse: 148                  
Pubic hair: Tanner I    L. testis: 1.1 x 1 cm   
Phallus length: 3 cm    Mid-shaft diam.: 1.1 cm 
This is a tiny, but very active youngster with big eyes and a slightly downturned mouth.  He is poorly cooperative with the examiner.  His skin is normal with good turgor.  He has a narrow, slightly high-arched palate, moderately generous tonsils and normal dentition for age.  I am unable to palpate a thyroid in his neck.   There are anterior cervical nodes present.  The chest is clear to auscultation.  The heart shows a rapid sinus rhythm with no murmur.  The pulses are normal.  The abdominal exam is benign. GU exam is notable for a slightly shawled scrotum, and a single left testis.  The phallus is of normal proportions.  The extremities are negative for increased carrying angle, shortened 4th metacarpals or metatarsals, or spoon-shaped fingernails, as one might find with the Turner phenotype.  The neurologic exam shows him to be bright and curious and into everything.  He has brisk deep tendon reflexes and a normal gait.

Laboratory studies:  Previous labs done in Texas include a normal renal echo, normal cardiac  ultrasounds and normal sweat test.  There is a normal gastroenterologic  evaluation except for the IgA deficiency.  I spoke with the gastroenterologist who saw Todd and he indicated that he had also done anti-endomysial antibodies looking for celiac disease, and this was negative.  

Labs ordered today include thyroid function tests as follows:  T4 is 8.4, TBGI 0.9, total T3 151, TSH 1.4, all of these are normal.  For growth, the IGF-1 is 64 ng/ml (normal for this age is 17-248), and IGF-BP3 is very slightly low at 1.2 mg/l (1.4 to 3).  Bone age was read as 2 years.

Impression: In summary, then, Todd has mixed gonadal dysgenesis, short stature which is probably part of his picture that goes with the karyotype, and rather slow weight gain.  There is a family history for short stature, and there is a chronic diarrhea which has not yet been explained.  He is known to have IgA and I think a partial IgE deficiency.  Given that his bone age is on target at 2 years, and that his growth factors are approximately normal, I would not explore further a growth hormone deficiency in seeking to explain the short stature. I would, however, follow his growth at regular intervals, and if there is any deviation  from an established pattern, would then relook, especially at the thyroid function tests.  Female Turner syndrome patients often benefit from GH given from age 5 or 6, even when tests do not reveal GH deficiency.  One might consider its use here if slow growth continues. 

Disposition: It was a pleasure seeing Todd and his family, and I thank you for letting me share in his care.  I will be sending them a copy of this report to take with them as they are soon moving to Atlanta.


Sincerely,






Maritza Brezny, MD             
Attending in Endocrinology


# BIGPATS_PAT_FIN_ACCT

ADMT_DIAG_DESCR:
S/P FONTAN;SEVERE PROTEIN LOSING ENTEROPATHY;CLOTTING DISORDER


USER_FLD_TXT:
CALLED MH ON 11-01-89 NO MEDICARE INFO BILLED     BACK TO UNISYS ON PAPER


ADMT_DIAG_DESCR:
MIDDLE EAR INFECTION    OR 12/1 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC    OR 12/1 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
MYELO;LATEX ALLERGY;RIGHT RECURRENT CLUBFOOT;SPECIAL NEEDS    WU 6/27


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC IGHT RECURRENT CLUBFOOT;SPECIAL NEEDS    WU 6/27


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC ILD RIGHT PULMONARY ARTERY STENOSIS


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS     ILD RIGHT PULMONARY ARTERY STENOSIS


ADMT_DIAG_DESCR:
POSTERIOR MEDIASTINAL MASS, LEFT    OR 7/31


ADMT_DIAG_DESCR:
R/O REJECTION OF RENAL TRANSPLANT   W/U 9/1


ADMT_DIAG_DESCR:
TESTICULAR PAIN, GROIN INJURY  3 DAYS AGO


ADMT_DIAG_DESCR:
STATUS POST EXTENSOR SLOUGH    LEFT HAND;KIDNEY TRANSPLANT   OR 12/20


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC SISTANT RICKETTS   W/U 9/2


ADMT_DIAG_DESCR:
LEFT FEMORAL TIBIAL BOWING;RICKETS   W/U 5/2


ADMT_DIAG_DESCR:
BOW LEG DEFORMITY WITH RICKETS    OR 2/8


ADMT_DIAG_DESCR:
IMPACTED TEETH,S/P RENAL TRANSPLANT OR 7/20


ADMT_DIAG_DESCR:
CLOACA                         REG ADMIT 1/27 ANEST CONSULT ONLY


USER_FLD_TXT:
DENIED FOR DIAG/PROC CODE CONFLICT ON 3-6-90      REMIT.  ADJ.OFF $33.00 FOR MED SOC SVS   AKIN


ADMT_DIAG_DESCR:
CLOACA DYPLASTIC KINDNEYS RENALINSUTTICIENCY INPERFORATE ANUS


ADMT_DIAG_DESCR:
SEROUS OTITIS MEDIA;CONGENITAL ANOMALY   OR 1/6 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
LOW O2 SATS          ONGENITAL ANOMALY   OR 1/6 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
BIL MYR & TUBES      ONGENITAL ANOMALY   OR 1/6 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC  CONGENITAL ANOMALY   OR 2/10 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC OTITIS ME-DIA   W/U 11/13


ADMT_DIAG_DESCR:
ADENOIDECTOMY/BIL M&TOTITIS ME-DIA   W/U 11/13


ADMT_DIAG_DESCR:
EUA AD RT M&T        OTITIS ME-DIA   W/U 11/13


ADMT_DIAG_DESCR:
RECURRENT OTITIS MEDIA;CARDIAC PROBLMES   OR 7/19 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC A;CARDIAC PROBLMES   OR 6/7  DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
BM&T                 A;CARDIAC PROBLMES   OR 6/7  DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
RECURRENT OTITIS MEDIA;OARTIC STENOSIS   OR 11/11 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC A;OARTIC STENOSIS   OR 11/11 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
CHRONIC OTITIS MEDIA   OR 10/27 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC   OR 10/27 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
RENAL ULTRASOUND     , MODERATE;TURNER'S SYNDROME


ADMT_DIAG_DESCR:
CHRONIC OTITIS MEDIA. CONDUCTIVE HEARING LOSS (TURNERS SYNDROME. S/P C


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC / INTRAOCULAR LENS REPLACEMENT OD


ADMT_DIAG_DESCR:
POSTERIOR URETHRAL VALVE       W/U 11/21


ADMT_DIAG_DESCR:
RENAL ANGIOGRAM WITH RANAL VEIN LEVEL/ RENAK FAILURE ON LEFT WITH HYPE


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC MYELOMENINGOCELE;SEIZURE DISORDER;HYPERTENSION


ADMT_DIAG_DESCR:
POLYDACTYLY RIGHT FOOT;BILATERAL HAND   OR 3/16


ADMT_DIAG_DESCR:
POLYDACTYLY RIGHT FOOT;BILATERAL HAND    W/U 3/12


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC T;BILATERAL HAND    W/U 3/12


ADMT_DIAG_DESCR:
POLYDACTYLY RIGHT FOOT,BILATERAL HANDS   W/U 4/5


ADMT_DIAG_DESCR:
POLYDACTYLY R FOOT   T,BILATERAL HANDS   W/U 4/5


ADMT_DIAG_DESCR:
SLEEP STUDY          T,BILATERAL HANDS   W/U 4/5


ADMT_DIAG_DESCR:
ADENOTONSILLAR HYPERTROPHY;CHRONIC OTITIS MEDIA   OR 8/18


ADMT_DIAG_DESCR:
ADENOTONSILLAR HYPERTROPHY;CHRONIC O M;23 HR OBST PT;ICU BED  WU 8/17


ADMT_DIAG_DESCR:
POLYDACTYLIES RIGHT FOOT BILATERAL HANDS    W/U 10/6


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC OOT BILATERAL HANDS    W/U 10/6


ADMT_DIAG_DESCR:
BARDET-BIEDL SYNDROME   OR 11/3 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
POST AXIAL POLYDACTYLY RIGHT   FOOT AND BILATERAL HANDS


ADMT_DIAG_DESCR:
QUESTION POLYCYSTIC KIDNEY     DISEASE    W/U 8/21


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC IDNEY     DISEASE    W/U 9/4


ADMT_DIAG_DESCR:
QUESTION OF SLEEP APNEA;S/P LUNG TRANSPLANT;ETA:20:00


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC EA;S/P LUNG TRANSPLANT;ETA:20:00


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC ANSPLANT  CYSTIC FIBROSIS


ADMT_DIAG_DESCR:
SLEEP APNEA;CPAP CALIBRATION;C P;LUNG TX;ETA:19:00


ADMT_DIAG_DESCR:
ABDOMINAL PAIN S/P KIDNEY      TRANSPLANT


ADMT_DIAG_DESCR:
CHICKEN POX EXPOSURE           VZIG SHOT


ADMT_DIAG_DESCR:
UNKNOWN NEUROLOGIC DISORDER;B I H   OR 5/25


ADMT_DIAG_DESCR:
RIGHT HYDROCELE;MULTIPLE HEPATIC LESIONS;G E REFLUX   OR 8/5


ADMT_DIAG_DESCR:
PINEAL BLASTOMA    OR 5/9 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
PINEAL BLASTOMA   OR 7/26 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC 7/26 DSU-ANEST CONSULT


ADMT_DIAG_DESCR:
MELANOTIC STOOLS     ING PROBLEMS;AIRWAY CONCERNS;PH PROBE AT 1 PM


ADMT_DIAG_DESCR:
CLOACA;ESOPHAGEAL ATRESIA;COARCTATION OF AORTA;BOWEL PREP


ADMT_DIAG_DESCR:
CYSTO W/VIDEO        VIC       JUNCTION OBSTRUCTION


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS     VIC       JUNCTION OBSTRUCTION


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC VIC       JUNCTION OBSTRUCTION


ADMT_DIAG_DESCR:
ADRENOGENITAL SYN. W/ MASCULINIZATION OF GENITOURINARY ANATO   OR 8/7


ADMT_DIAG_DESCR:
S/P ESOPHAGEAL TEAR;CARDIAC DISEASE  OR 2/17


ADMT_DIAG_DESCR:
GENERAL SYMPTOMS NEC ARDIAC DISEASE    W/U 2/16


ADMT_DIAG_DESCR:
RIGHT URETEROPELVIC JUNCTION OBSTRUCTION   OR 10/30


ADMT_DIAG_DESCR:
RECTAL BLEEDING;NEUROFIBROMATOSIS;OPTIC GLIOMA*OR 10/25 DSU-ANEST


ADMT_DIAG_DESCR:
COARCTATION OF THE AORTA;AORTA STENOSIS   OR 7/5


ADMT_DIAG_DESCR:
RIGHT INGUINAL HERNIA;COARCTATION OF AORTA    OR 7/25


