ESPE Abstracts (2016) 86 P-P2-410

ESPE2016 Poster Presentations Gonads & DSD P2 (59 abstracts)

Unusual Differential Diagnosis of Hyperandrogenism in Adolescent Female Treated for Polycystic Ovarian Syndrome

Carolina Di Blasi , Anne-Marie Amies-Oelschlager , Kathryn Ness & Ann Giesel


Seattle Children’s Hospital, Univerity of Washington, Seattle, Washington, USA


Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.

Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She reported thelarche at 9, adrenarche at 9 and menarche at 11 years with subsequent oligomenorrhea. She reported acne, hirsutism and occasional right lower quadrant pain. She was started on insulin-sensitizers, spironolactone and oral contraceptive pills at age 11. She had been off treatment for one year, without spontaneous resumption of menses. She continued to struggle with hirsutism. On physical exam: weight 99%, height 97% and BMI 98%. Blood pressure was elevated. She was proportionally obese, had acanthosis nigricans and hirsutism. Tanner stage V breast and pubic hair. Her clitoris was 2 cm length and 1 cm width. Laboratory evaluation: BG 91 mg/dl, TSH 0.89 μIU/ml, morning 17OHProgesterone 1261 ng/dl, DHEAS 202 μg/dl, Testosterone 359 ng/dl (12–60), free Testosterone 14 ng/dl (0.3–1.9), FSH 2.0 mIU/ml, Prolactin 12 ng/ml. Midnight salivary cortisol <50 ng/dl (<100), normal morning Cortisol and ACTH. ACTH stimulation test revealed a 60 min 17OH Progesterone 1270 ng/dl, normal values of 11-Deoxycorticosterone. Karyotype 46,XX. Computerized tomography of the adrenals was normal. There was a 3.2×2.0×2.8 cm hyper-enhancing lesion with central hypodensity on the right ovary, unchanged with follow up ultrasound. The decision was to perform a laparoscopic right salpingo-oophorectomy. Pathology was consistent with steroid cell tumor, not otherwise specified. Hormonal levels normalized after resection.

Conclusion: Virilizing tumors are a very rare cause of hyperandrogenism in adolescents. Appropriate initial assessment of hyperandrogenism and irregular menstrual cycles can lead to early diagnosis and appropriate intervention.

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