A Case of Sertoli Cell Tumor in a Patient with Familial Partial Lipodystrophy Type 2
October 2025
in “
Journal of the Endocrine Society
”
TLDR A rare ovarian tumor was found in a young woman with a genetic fat disorder.
This case study describes a 21-year-old female with familial partial lipodystrophy (FPL) type 2, a rare genetic disorder characterized by selective adipose tissue loss and metabolic abnormalities, who was found to have a Sertoli cell tumor of the ovary, a rare cause of hyperandrogenism. The patient, with a history of polycystic ovarian syndrome (PCOS), presented with symptoms including excess hair growth, hair thinning, and irregular periods. Blood tests revealed elevated testosterone levels, and imaging identified a tumor in the left ovary, which was confirmed as a Sertoli cell tumor following surgical removal. This case is notable as it is the first reported instance of a Sertoli cell tumor in an individual with FPL type 2, highlighting a potential but unconfirmed association between these two rare conditions.