MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2

Abstract Disclosure: V. Rivera-Hernandez: None. I. Singh: None. Familial partial lipodystrophies (incidence of 1 in 1 million people) are a group of disorders of selective adipose tissue loss that can be caused by Autosomal dominant or autosomal recessive inheritance. Familial partial lipodystrophy (FPL) type 2 (also called Dunnigan lipodystrophy) is the most common form and results from a missense mutation of Lamins A and C. Individuals have normal adipose tissue distribution during childhood, with gradual loss of adipose tissue that occurs at or after puberty at the arms, legs and trunk, and accumulation at the face, neck, and upper back. FPL is also characterized by the appearance of hypertrophic muscles and metabolic disorders including insulin resistance, hypertriglyceridemia, and hyperandrogenism. Sertoli cell tumors of the ovary (incidence of < 0.5%) are a rare cause of hyperandrogenemia. There are no published case reports of Sertoli cell tumor of the ovary in an individual with FPL as we now describe. A 21-year-old female with history of polycystic ovarian syndrome (PCOS) presented for evaluation of PCOS and concern for excess cortisol levels. Diagnosed with PCOS 5 years earlier by Gyn. Reported excess hair growth at the chin, lower abdominal area, and upper back, anterior scalp hair thinning, round face, and “buffalo hump”. Menarche occurred at age 11, two years after which her periods became irregular, skipping 2-3 timer per year. She is of Polish and German descent and her sister also has a history of PCOS. PCOS was managed with OCP, spironolactone and metformin. On physical exam, was noted to have some facial rounding, hirsutism, hair thinning, mildly coarse facial features, and wide neck. No dorsocervical fad pad. She had markedly muscular extremities. Additional history revealed that her sister also has a similar muscular physique without exercise training. Blood work yielded triglycerides 314 mg/dL (<150 mg/dL), total testosterone 552 ng/dL (2-45 ng/dL), free testosterone 149.0 pg/dL (0.1-6.4 pg/dL), sex-hormone binding globulin 11 nmol/L, insulin at 32.7 uIU/mL, and DHEA-s, 24 H urinary cortisol, IGF-1, TSH, Free T4, A1c and metabolic panel were normal. Transvaginal pelvic ultrasound revealed a mildly hyperechoic 3.2 cm circumscribed nodule in the left ovary suspicious for a Sertoli/Sertoli-Leydig cell tumor. MRI done for further evaluation showed a 3 cm lesion in the left ovary with isointense signal on T1, intermediate signal on T2; postcontrast images revealed a homogeneous enhancement. Patient was referred to gynecology oncology and underwent left salpingo-oophorectomy. Pathology showed a 2.9 cm well circumscribed Sertoli cell tumor. The possibility of adipose tissue re-distribution and increased musculature was evaluated further, and the patient has been diagnosed with FPL type 2.The case highlights a rare cause of hyperandrogenism in a patient with FPL type 2. It is unknown if there are any associations between these two rare diseases. Presentation: Monday, July 14, 2025