Stelios Mantis, MD DuPage Medical Group Pediatric Endocrinology
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1 Stelios Mantis, MD DuPage Medical Group Pediatric Endocrinology
2 Initial Presentation Pt initially presented to pediatrician for school physical in fall 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.
3 Initial Presentation CC: 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
4 Initial Presentation Past 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
5 Initial Presentation Physical Exam: BP 118/84 Pulse 64 Ht 62.7 inches (40 th %) Wt 155 lb 3.2 oz (90 th %) BMI 27.7 (95 th %) 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
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9 Differential Diagnosis Late onset CAH PCOS Androgen exposure Hypercortisolemism Adrenal Tumor Virulizing Tumor Glucocorticoid resitance
10 Tests Ordered (AM labs) Free Testosterone: 3.5 pg/ml Prolactin: 17.5 ng/ml ( ) Estradiol: 19 pg/ml LH: 19 miu/ml FSH: 9.2 miu/ml SMBG: 5.3 nmol/l ( ) Androstenedione: 354 ng/dl (50 224) 17 OH Progesterone: 108 ng/dl (20 285) Insulin: 32.4 uiu/ml ( ) DHEA S: ug/dl ( ) CMP: nl except fasting glucose of 101 mg/dl TSH: uiu/ml Free T4: 1.26 ng/dl ACTH: pg/ml ( ) Cortisol: 24.4 ( ) Bone age: ordered but not done
11 Tests Ordered (AM labs) Free Testosterone: 3.5 pg/ml Prolactin: 17.5 ng/ml ( ) Estradiol: 19 pg/ml LH: 19 miu/ml FSH: 9.2 miu/ml SMBG: 5.3 nmol/l ( ) Androstenedione: 354 ng/dl (50 224) 17 OH Progesterone: 108 ng/dl (20 285) Insulin: 32.4 uiu/ml ( ) DHEA S: ug/dl ( ) CMP: nl except fasting glucose of 101 mg/dl TSH: uiu/ml Free T4: 1.26 ng/dl ACTH: pg/ml ( ) Cortisol: 24.4 ( ) Bone age: ordered but not done
12 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
13 Elevated ACTH/cortisol at 1600; loss of diurnal cortisol pattern 24 hr urine cortisol/mid salivary cortisol Low Intermediat e High obesity pseudocushing suppressed Low dose dex Suppression test Unsuppressed Suppressed = pituitary source No suppression = Ectopic ACTH or adrenal tumor Hypercortisolem ia High dose dex
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16 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.
17 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
18 References Kappy et al. Pediatric Practice Endocrinology. Chapter 5 Adrenal Disorders pp Jameson, LJ, De Groot,LJ. Endocrinology Adult and Pediatric Volume 1. 6 th edition pp
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