Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature

Abstract EN

We describe a case of a 24-year-old overweight woman who presented with hirsutism, secondary amenorrhea, clitoromegaly, and symptoms of diabetes mellitus (DM).

While a diagnosis of polycystic ovary syndrome (PCOS) with its associated metabolic disturbances was initially considered, serum total testosterone, androstenedione, and 17-hydroxyprogesterone (17-OHP) measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) were significantly increased.

As 17-OHP did not increase upon ACTH (Synacthen) stimulation and the urinary steroid profile (USP) was compatible with an ovarian source of 17-OHP excess rather than adrenal, non classical congenital adrenal hyperplasia (NCCAH) was unlikely and an androgen-secreting tumor was suspected.

Transabdominal ultrasound revealed the presence of an enlarged right ovary with a polycystic ovary morphology and no discrete mass.

Transvaginal ultrasound and [18F]− fluorodeoxyglucose positron emission tomography–computed tomography (FDG PET–CT) enabled the localization of a right ovarian tumor.

Laparoscopic right salpingo-oophorectomy was performed and a histological diagnosis of steroid cell tumor, not otherwise specified (SCT–NOS) was made.

Hyperandrogenism and menstrual disturbances resolved postoperatively.

A literature review revealed that 17-OHP-secreting SCT–NOS may uncommonly show positive responses to ACTH stimulation similar to 21-hydroxylase deficiency.

Alternatively, USP might be useful in localizing the source of 17-OHP to the ovaries.

Its diagnostic performance should be evaluated in further studies.