Sertoli-Leydig cell tumour in a patient with non-classic congenital adrenal hyperplasia: an uncommon duo

• Published in: BMJ case reports Vol. 12; no. 9; p. e230691
• Main Authors: Kamani, Sankeerthana, Sampathkumar, Geethalakshmi, Asirvatham, Adlyne Reena, Balachandran, Karthik
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01-09-2019; BMJ Publishing Group
• Series: Case report
• Subjects: 17-alpha-Hydroxyprogesterone - metabolism; Adolescent; Adrenal glands; Adrenal Hyperplasia, Congenital - complications; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - metabolism; Amenorrhea; Androgens; Case reports; Congenital diseases; Female; Hormones; Humans; Hyperplasia; Incidental Findings; Infertility; Menstruation; Neuroendocrine tumors; Ovarian cancer; Polycystic ovary syndrome; Salpingo-oophorectomy; Sertoli-Leydig Cell Tumor - complications; Sertoli-Leydig Cell Tumor - diagnosis; Sertoli-Leydig Cell Tumor - metabolism; Sertoli-Leydig Cell Tumor - pathology; Testosterone; Tumors; Unusual Association of Diseases/Symptoms; Virilism - etiology; Women; adrenal disorders; endocrine system; endocrine cancer
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2019-230691

Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural from non-tumoural causes. We report a rare case of non-classic CAH and androgen-producing ovarian tumour in the same patient, causing hyperandrogenism. A 15-year-old female patient presented with secondary amenorrhea, excessive facial hair growth and clitoromegaly for 6 months. Due to severe virilisation, tumoural aetiology was considered. Investigations showed marked elevation of testosterone and mild elevation of 17 hydroxy progesterone (17OHP). Imaging confirmed right ovarian tumour. Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. Surgical removal of the tumour was followed by improvement in hyperandrogenism, but persistent elevation of 17OHP confirmed the underlying presence of non-classic CAH.