Endocrine Abstracts

48-year-old taxi driver presented with a 2-year history of subfertility and confirmed azoospermia. He had normal libido and normal sexual function. His height was 156 cm and he had a normal blood pressure. His medical history included pre-diabetes. He took no regular medications. He had never smoked and he did not drink alcohol. He denied use of exogenous anabolic steroids. His blood tests showed a normal testosterone level of 17.6 nmol/l (RR10.0-3.0 nmol/l) with low gonadatrophins, LH <0.1 (RRL2.0-12.0 u/l) and FSH 0.2 u/l (RR 1.7-8.0 u/l). There was also polycythaemia with a haemoglobin level of 171g/l(RR130-168 g/l) and haematocrit of 0.52l/l (0.39-0.50l/l). An extended androgen profile showed a raised androstenedione level of 73.6 nmol/l(RR<9.0 nmol/l), raised dehydroepiandrosterone 22.3 umol/l (RR0.8-6.9 umol/l) and significantly elevated 17-hydroxyprogesterone level of 886.6 nmol/l (RR<9.6 nmol/l) raising the suspicion of congenital adrenal hyperplasia (CAH). Genetic testing confirmed a diagnosis of CYP21A2-related CAH (non-classical CAH). An ultrasound scan of the testes was carried out to investigate for testicular adrenal rest tumours, which were not seen but the scan did confirm small atrophied testes (testicular volume 2cc). The patient expressed that achieving fertility was his main priority. His partner, aged 41 years, underwent fertility investigations and no cause of subfertility was identified. As such, the patient was commenced on human chorionic gonadatrophin injections with the aim of sperm induction as well as prednisolone 3 mg once daily for CAH. Unfortunately, the patient reported feeling unwell with the prednisolone and attributed it to this medication so the dose was reduced to 1 mg. He also developed type 2 diabetes and commenced metformin. This case highlights CAH as rare cause of subfertility and individualised treatment according to the patient’s fertility aims. In this case, the serum testosterone levels were within normal range, but reflected androgen production rather than testicular production. Gonadotrophic injections aimed to stimulate testicular androgen production and subsequent spermatogenesis, while exogenous corticosteroids aim to suppress the adrenal production of androgens. The case also highlights the therapeutic challenges of using corticosteroids given potential adverse effects, such as the development of Type 2 diabetes.