28. Elevated 17-Hydroxyprogesterone (17-OHP) in Ovarian Sertoli-Leydig Cell Tumor

Abstract

<h3>Background</h3> Ovarian Sertoli-Leydig cell tumors (SLCTs) are rare sex cord-stromal tumors, which account for less than 0.5% of all malignant ovarian neoplasms. Patients often present with signs of hyperandrogenism; examples include menstrual cycle irregularities, hirsutism and acne. SLCTs are typically associated with elevated levels of testosterone, dehydroepiandrosterone sulfate (DHEA-S) and alpha fetal protein (AFP). Prior cases have reported an association of SLCTs with elevated 17-hydroxyprogesterone (17-OHP) which can create clinical confusion and the potential misdiagnosis of non-classic congenital adrenal hyperplasia (NCCAH). We present a case series of patients with SLCTs with concurrent 17-OHP elevation without the diagnosis of NCCAH. <h3>Case</h3> Case 1: A 15 year old presented for evaluation of secondary amenorrhea. Laboratory evaluation was remarkable for elevated total testosterone (692 ng/dL), DHEA-S (313 ug/dL), and 17-OHP (362 ng/dL). Computed Tomography (CT) scan of the abdomen and pelvis revealed a 5 cm right ovarian mass. She underwent diagnostic laparoscopy and right oophorectomy. Surgical pathology demonstrated stage 1A intermediate to poorly differentiated SLCT. Case 2: A 12 year old presented for evaluation of secondary amenorrhea. Laboratory evaluation was significant for elevated total testosterone (127 ng/dl), DHEA-S (242 ug/dl), and 17-OHP (461 ng/dl). Inhibin B and AFP were also elevated. Pelvic ultrasound revealed an enlarged solid appearing left ovary measuring 6 cm. She underwent exploratory laparotomy and left oophorectomy. Surgical pathology demonstrated stage 1A moderately to poorly differentiated SLCT. Case 3: A 14 year old presented for evaluation of irregular menses and deepening of voice. Laboratory evaluation was significant for elevated total testosterone (354 ng/dl) and 17-OHP (306 ng/dl). AFP was also elevated. CT scan of the abdomen and pelvis revealed a 31 cm complex mass likely arising from the right adnexa. She underwent exploratory laparotomy, right salpingo-oophorectomy. Surgical pathology demonstrated stage 1A moderately differentiated SLCT. <h3>Comments</h3> We present three cases of 17-OHP elevation in the setting of SLCT. One patient underwent evaluation for NCCAH with normal adrenocorticotropic hormone stimulation test. Recognition of the potential production of 17-OHP by SLCTs can prevent any unnecessary testing and delay in diagnosis and intervention. All tumors were remarkable for moderate to poorly differentiated histology. We theorize that the production of 17-OHP is secondary to underlying dysregulation of androgen production by the SLCTs and may predict a more poorly differentiated tumor. A larger case series would help to address this theory and further explore this rare association.