Endocrine Abstracts

Our patient a 39yr old man was referred to endocrinology clinic. He described a history of being diagnosed with congenital adrenal hyperplasia after presenting with a salt wasting state at 6 weeks old. After living in Dublin as a child his family moved to Canada for 14yrs. At presentation he was taking hydrocortisone 10 mg twice daily and fludrocortisone 0.1 mg once daily. His main concern was fertility. He and his wife had been investigated in Canada. Information provided by the patient showed that in Aug 2011 FSH 2IU/L (2–8), LH <1 IU/L (2–6), were at the lower limit of detection and testosterone 26.0 nmol/L (8.4–28.7) was normal. Two semen assessment reports from 21/4/11 and 17/9/12 confirmed azoospermia. USS testes 23/8/11 reported bilateral testicular masses felt to be testicular adrenal rests. He reported good health. Height 162 cm (2nd-9th centile) and weight 66.3 kg (25th – 50th centile). His mother was 4ft11ins and father 5ft 11ins so he measured towards the lower end of the mid parental height range. BMI 25 kg/m². Secondary sexual characteristics were Tanner stage 5. Testicular volume was >25 ml bilaterally with irregular and firm consistency felt to be in keeping with extra-adrenal rests. BP 131/83. 12/9/16 Initial testosterone was 45.5 nmol/L but when repeated 10/10/16 testosterone had fallen to 7.2 nmol/L with LH<0.2I U/L and FSH 0.6 IU/L and then 10/2/17 rose to 12.2 nmol/L, LH <0.2 IU/L and FSH 0.5IU/L remained suppressed. On the basis of an extremely elevated testosterone and suppressed TSH there were concerns regarding exogenous testosterone supplementation. USS 10/10/16 showed coarse testicular tissue almost completely replaced with what seemed to be most likely extra-adrenal rests. Genetic profiling supported a diagnosis of congenital adrenal hyperplasia due to 21-hydroylase deficiency. He was referred to our regional fertility clinic. On repeat testing his gonadotrophins were consistently low despite fluctuating androgen levels. At review his corticosteroid replacement regimen was changed to dexamethasone 1.5 mg at 10 pm and 0.375 mg at 8 am aiming to ensure suppression of ACTH to reduce adrenal testosterone production and resulting suppression of LH secretion. He is currently planned for a trial of gonadotrophin therapy in an attempt to stimulate spermatogenesis. He has been counselled that if medical management fails to reverse azoospermia there are reports of success with micro-TESE but Sperm Donation or adoption may be needed. This case reflects the struggle with fertility as a consequence of sub optimally controlled CAH and TART formation in male patients.