Abstract
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.
Highlights
Identifying the underlying cause and localizing the source of elevated androgens or their precursors in woman with hyperandrogenism can be challenging
We reviewed the literature for the association of high 17-OHP levels and SCT–NOS
An ovarian source of 17-OHP is associated with the elevation of 17-hydroxypregnanolone and pregnanetriol only [43], as exemplified in a report of a 35-year-old woman with an androgen- and 17-OHP-secreting SCT-NOS, in which the 17-OHP concentration was 100.5 nmol/L [44]. It appears that the “ovarian pattern” of 17-OHP metabolism in urinary steroid profile (USP) was maintained even at such a high 17-OHP concentration without an “overflowing” of 17-OHP metabolism to the production of 11-oxopregnanetriol. erefore, obtaining a USP in the investigation of female hyperandrogenism with elevated 17-OHP could be helpful in determining the source of 17-OHP excess and excluding non classical congenital adrenal hyperplasia (NCCAH)
Summary
Identifying the underlying cause and localizing the source of elevated androgens or their precursors in woman with hyperandrogenism can be challenging. In the setting of female hyperandrogenism, a significant elevation of 17-hydroxyprogesterone (17-OHP) is o en suggestive of a diagnosis of congenital adrenal hyperplasia (CAH), most commonly 21-hydroxylase deficiency. Androgen-secreting tumors, which may be of adrenal or ovarian origin, may be responsible for such finding. Investigations for an increased 17-OHP generally include serum androgen profile, ACTH stimulation test, urinary steroid profile (USP), and if biochemically compatible with 21-hydroxylase deficiency, confirmation by molecular testing of the CYP21A2 gene. We present the diagnostic challenges in a young woman with hirsutism and significantly elevated total testosterone, androstenedione and 17-OHP in whom the diagnosis of a hormone-secreting steroid cell tumour, not otherwise specified (SCT–NOS) was made.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
