Ovarian Steroid Cell Tumor Masquerading as Steroid-Unresponsive Congenital Adrenal Hyperplasia

Objective: Ovarian neoplasms in children are rare. The objective of this report is to emphasize the importance of considering those neoplasms in the differential diagnosis of hyperandrogenism even with negative diagnostic imaging.

Methods: We report the case of a 12-year-old girl who presented with virilization and elevated 17 hydroxyprogesterone (17-OHP) and who was subsequently diagnosed with an ovarian neoplasm.

Results: The patient was initially seen for hirsutism and deepening of the voice. Elevated 17-OHP, androstenedione, and testosterone prompted the initial diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, but those levels failed to suppress on corticosteroid therapy. Ultrasound, computed tomography scan, and magnetic resonance imaging of the abdomen and pelvis were normal. Genetic testing for congenital adrenal hyperplasia was negative. Bilateral selective adrenal and ovarian venous sampling confirmed the ovarian origin of her hyperandrogenism. A unilateral salpingo-oophorectomy revealed a steroid cell tumor. Postoperatively there was normalization of testosterone and 17-OHP.

Conclusion: This report highlights the utility of selective adrenal and ovarian sampling when suspecting a primary androgen-secreting neoplasm, even in the setting of elevated 17-OHP levels and negative imaging studies, as early diagnosis can prevent manifestation of irreversible symptoms of virilization.