Endocrine Abstracts

JOINT820

Introduction: The evaluation of secondary amenorrhea and progressive virilization in adolescent females requires a comprehensive approach to identify underlying causes of hyperandrogenism, from functional conditions to tumor-related causes, including adrenal and ovarian pathology. We present the clinical progression, diagnostic workup and successful management of a young patient with virilizing ovarian tumor, highlighting the importance of timely recognition and intervention.

Case Presentation: A 16-year-old, primigesta, primipara, known with nodular goiter, but no other significant personal or hereditary medical history, presented to our Endocrinology Department for secondary amenorrhea and progressive virilization over the previous year. Clinical examination revealed moderately severe hirsutism, widening of the biacromial diameter with an androgynous pattern of muscular hypertrophy, deepened voice, clitoromegaly and abdominal pain. Baseline and dynamic testing confirmed ovarian hyperandrogenism: baseline testosterone levels exceeding 5 times the upper limit of normal range [ULN], normal baseline DHEAS and 17-OH-progesterone levels, appropriate inhibition of cortisol, DHEAS and 17-OH-progesterone, but paradoxical increase in serum testosterone (7 x ULN) after the long Dexamethasone suppression test (0.5 mg every 6 hours, 5 days) which further increased (8X ULN) together with 17-OH-progesterone (5x ULN) after continuing with the short-acting GnRh analogue stimulation test. Abdominopelvic magnetic resonance imaging (MRI) revealed the right ovary replaced by a nodular mass measuring 43/29/44 mm, displaying heterogeneous tissue signal with an internal cystic component of 8 mm, diffusion restriction and heterogeneous gadolinium enhancement. A four-fold increase in alpha-fetoprotein (AFP), with normal levels of CA125, CEA and CA19-9, led to the diagnosis of virilizing ovarian tumor. Laparoscopic right adnexectomy was performed and histopathology confirmed a moderately-differentiated ovarian Sertoli-Leydig cell tumor (SLCT). Prompt diagnosis and surgical excision lead to an outstanding response, with restoration of menstrual cycles within weeks and clinical and biochemical resolution of hyperandrogenism within two months post-surgery. AFP returned to normal levels, with no ultrasonographic signs of residual disease.

Conclusions: Accounting for less than 0.5% of ovarian tumors, SLCTs do not usually associate with positive tumor markers, but may rarely produce AFP. When this occurs, they are the most common non-germ cell ovarian tumors associated with AFP secretion. Despite polycystic ovarian syndrome being the most common cause, a structured and thorough diagnostic approach in the evaluation of hyperandrogenism in adolescents is needed, especially when presenting with secondary amenorrhea and progressive virilization.