18
Stelios Mantis, MD DuPage Medical Group Pediatric Endocrinology 41113

Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

  • Upload
    others

  • View
    2

  • Download
    0

Embed Size (px)

Citation preview

Page 1: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Stelios Mantis, MD DuPage Medical Group

Pediatric Endocrinology4‐11‐13

Page 2: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Initial Presentation

Pt initially presented to pediatrician for school physical in 

fall 2012.

Pt was found to be overweight (BMI: 27.4) and have signs 

of insulin resistance (acanthosis) and hirsutism as well as  thyromegally (no thyroid exam in notes).

Fasting labs: Glucose 103 mg/dl, normal CMP otherwise, 

normal lipid panel, TSH: 0.95 mIU/ml, free testosterone:  2.7 pg/ml; thyroid US: 4 mm solid nodule, hypoechoic 

hypovascular.

Sent to endocrine. Mom told it’s likely PCOS.

Page 3: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Initial PresentationCC: 13 11/12 yr old female presents to peds endo with 

hirsutism, acanthosis, impaired fasting glucose, with  the previous labs.

ROS:  Has had hirsuitism and acanthosis for ~6 mo‐1yr,  not bothered by it. No polyuria no polydipsia or 

weight loss. No headaches, abdominal pain, or visual  deficits.  Deodorant use ~ 4 yr ago.  Menarche ~8 

months ago, periods irregular (perhaps every other  month). LMP: 3 wks ago. Feels she is done growing.  

No high blood pressure in the past

Page 4: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Initial PresentationPast medical history: Always been overweight, no meds 

no allergies

Family History:  Gestational DM (mom)

Mid Parental Height: 64 inches

Social Hx: no smoking, no alcohol, no illicit drug use,  not sexually active 

Page 5: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Initial Presentation

Physical Exam:

BP 118/84 Pulse 64  Ht 62.7 inches (40th%) Wt 

155 lb 3.2 oz (90th%) BMI 27.7 (95th%)

Gen:

Pleasant, NAD, cooperative

HEENT:

hair along jawline, upper lip, anicteric  sclera, MMM, Nl 

visual field, no palpable nodules on thyroid, generous thryoid, 

no lymphadenopathy, + acanthosis along neck

CV:

normal

Lungs:

CTAB

Abd:

soft obese, + hair in periumbilical region, no striae

Neuro:

nl reflexes, good strength in upper and lower extremities

Pubertal Exam:

no cliteromegally, Tanner 5 breast and pubic 

hair, + hair on areola

Page 6: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric
Page 7: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric
Page 8: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric
Page 9: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Differential Diagnosis

Late onset CAH

PCOS

Androgen exposure

Hypercortisolemism

Adrenal Tumor

Virulizing Tumor

Glucocorticoid resitance 

Page 10: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Tests Ordered (AM labs)

Free Testosterone: 3.5 pg/ml

Prolactin: 17.5 ng/ml (4.6‐23.3)

Estradiol: 19 pg/ml

LH: 19 mIU/ml

FSH: 9.2 mIU/ml

SMBG: 5.3 nmol/L (24.6‐122)

Androstenedione: 354 ng/dl (50‐224)

17 OH‐Progesterone: 108 ng/dl (20‐285)

Insulin: 32.4 uIU/ml (2.6‐24.9)

DHEA‐S: 314.7 ug/dl (33.9‐280)

CMP:  nl except fasting glucose of 101 mg/dl 

TSH: 0.929 uIU/ml

Free T4: 1.26 ng/dl 

ACTH: 475.9 pg/ml ( 7.2‐63.3) 

Cortisol: 24.4 (2.3‐19.4)

Bone age: ordered but not done

Page 11: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Tests Ordered (AM labs)

Free Testosterone: 3.5 pg/ml

Prolactin: 17.5 ng/ml (4.6‐23.3)

Estradiol: 19 pg/ml

LH: 19 mIU/ml

FSH: 9.2 mIU/ml

SMBG: 5.3 nmol/L (24.6‐122)

Androstenedione: 354 ng/dl (50‐224)

17 OH‐Progesterone: 108 ng/dl (20‐285)

Insulin: 32.4 uIU/ml (2.6‐24.9)

DHEA‐S: 314.7 ug/dl (33.9‐280)

CMP:  nl except fasting glucose of 101 mg/dl 

TSH: 0.929 uIU/ml

Free T4: 1.26 ng/dl ACTH: 475.9 pg/ml ( 7.2‐63.3) Cortisol: 24.4 (2.3‐19.4)

Bone age: ordered but not done

Page 12: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Phone call; 4 PM labs

ACTH: 71.8

Cortisol: 20.9

Midnight salivary cortisol: not sufficient sample  X 2

MRI: Ordered

Dex suppression test: 8 mg at midnight

8 am cortisol: 1.3 ACTH: 3.6

MRI: See following images

Page 13: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Elevated ACTH/cortisol at 1600; 

loss of diurnal cortisol pattern

24 hr urine cortisol/mid 

salivary cortisol

Low Intermediat

e High 

obesitypseudocushing

Low dose dexSuppression testsuppressed

Unsuppressed 

Hypercortisolem

ia 

High dose dex 

Suppressed = pituitary 

source 

No suppression = 

Ectopic ACTH or 

adrenal tumor

Page 14: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric
Page 15: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric
Page 16: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

MRI Results

There is a sellar

mass with suprasellar

extension and 

what appears to be indentation at  the diaphragmatic  sella

based on sagittal

image seven and demonstrating 

enhancement, overall measuring approximately 10 x 11  x 12 mm in AP, transverse, and craniocaudal

dimensions, respectively, with involvement of the  pituitary infundibulum.

Page 17: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

Next Steps

Call placed to U of C neurosurgery

Informed pt and family of results

Went over possible course of action

Visual field testing ordered

Dr. Yamini has seen and evaluated patient

Surgery Scheduled for late April 2013

Pt currently in Philippines for a planned vacation

Page 18: Pediatric Endocrinology 4 11 13wordpress.uchospitals.edu/endopublic/files/downloads/2013/05/201… · 11-04-2013  · Initial Presentation ... hair along jawline, upper lip, anicteric

References‐Kappy et al. Pediatric Practice Endocrinology.Chapter 5 Adrenal Disorders pp 180‐181.

‐Jameson, LJ, De Groot,LJ.  Endocrinology Adult and  Pediatric Volume 1. 6th

edition pp308‐309.