Endocrine Abstracts

JOINT53

Introduction: The approach to amenorrhoea, hirsutism and virilisation in a young female is an important though uncommonly encountered scenario in general Endocrinology. We present a case of a 28-year-old patient who presented with secondary amenorrhoea, hirsutism and virilisation, and was subsequently diagnosed with congenital adrenal hyperplasia (CAH), likely secondary to 21-hydroxylase deficiency (classic simple virilising type).

Case Presentation and Management: Our patient is a 28-year-old Chinese lady referred to Endocrinology for secondary amenorrhoea. She had a history of epileptic seizures secondary to a right frontal cavernoma on long term carbamazepine. Other significant history included ambiguous genitalia in infancy requiring corrective surgery at 18 months, and hirsutism with excessive body hair growth starting in adolescence. She was also on long term hydrocortisone 10 mg nightly since childhood for hypocortisolism diagnosed during a hospital admission for fever and diarrhoea. There was no history of a salt wasting crisis in infancy or childhood. On examination, she exhibited significant hirsutism (Ferriman-Gallwey score 9), as well as signs of virilisation including voice deepening, temporal balding, acne on her face and chest, and increased muscle mass. Examination of her external genitalia revealed a normal labia majora and minora and genital orifices. There was some evidence of clitoromegaly, although this was confounded by post-surgical changes and scarring. There were no abdominal masses nor undescended gonads in the inguinal region. Investigations showed a high testosterone level within the male range with a markedly raised 17-hydroxyprogesterone level, confirming the diagnosis of CAH. Morning cortisol levels were low with elevated ACTH levels and lack of cosyntropin response, consistent with primary hypocortisolism. Aldosterone levels were adequate. Trans-abdominal pelvic ultrasound showed a normal sized uterus and ovaries. The patient was diagnosed with CAH likely secondary to 21-hydroxylase deficiency (classic simple virilising type). Our patient was started on oral dexamethasone at night, which was subsequently changed to oral prednisolone twice a day, resulting in significant improvement in hirsutism and acne, as well as return of menses. Special attention was given to her concurrent carbamazepine administration which would increase clearance of the administered glucocorticoids.

Discussion and Conclusion: The presentation of secondary amenorrhoea with virilisation in a young female is uncommon, with CAH being one of the possible causes. We will discuss the management of CAH (particularly with regard to steroid choice) and how it can be individualised to incorporate patient’s preferences, desired goals for fertility and comorbidities.