ESPE Abstracts

Introduction: Virilization and menstrual irregularities in a background of insulin resistance in adolescents is commonly attributed to polycystic ovarian disease (PCOD). However, clinicians should have a high index of suspicion for causes masquerading as PCOD when encountering atypical findings. We describe a case where we identified a rare cause of androgen excess.

Case: A 13-year-old girl presented with primary amenorrhea and history of severe hirsutism initially noticed at 11 years of age. She had a sexual maturity stage (SMR) of IV, a Ferriman-Gallwey score of 36 (maximum score), male body habitus, clitoromegaly of size 1.9 cm, acanthosis nigricans and obesity (BMI 33 kg/m2). She had markedly raised serum testosterone of 100 ng/dl which further rose to 190 ng/ml in a year which is significantly higher than levels seen in PCOD. Other biochemical findings were LH preponderance (LH - 7.95 IU/ml, FSH - 5.31 IU/ml) and an estradiol level of 41.6 pg/ml. She was further investigated for atypical causes prompted by the very high testosterone levels mainly, 17-hydroxyprogesterone: 119 ng/dl (7-170), dihydroepiandrostenidione (DHEAS): 61.5 ug/dl (33.9-280) and 8 am cortisol: 5.1 ug/dl (6.2-19.4), which were within normal limits. An MRI pelvis for detailed anatomy revealed a 5.1*3.7*3.9 cm right sided ovarian mass which on further laparoscopic salpingo-oopherectomy and histopathology was confirmed to be a mature teratoma. Surprisingly, it was the additional finding of an ectopic hilus cell nodule in the para-tubal soft tissue which was the source of the testosterone. On follow-up in 6 weeks’ time her serum testosterone levels dropped significantly to 54 ng/dl.

Discussion: We encountered a rare cause of severe androgenization in a young adolescent. Hilus cells are morphological counterparts of testicular Leydig cells and such heterotopia is known to be associated with pelvic tumors for unknown reasons like seen here^1,2. Biochemistry, detailed pelvic imaging and histopathology can prove useful in the delineation of such causes of androgenization. Ectopic hilus cell rests should be added to our list of differentials when investigating severe androgenization with no apparent cause especially, after ruling out traditional etiologies.

References: 1. Fischer, Edgar G. Two Rare Cases of Paratubal Leydig Cell Nodules: Clinical Relevance and Debated Terminology of a Noteworthy Incidentaloma. International Journal of Gynecological Pathology, 2024. 2. Hong-Lin He,Ying-En Lee et al. Hilus cell heterotopia accompanying bilateral ovarian serous cystadenomas: a case report and review of the literature. Int J Clin Exp Pathol. 2014.