Endocrine Abstracts

A 26-year-old man with known CAH (21-hydroxylase deficiency) presented with infertility. Investigations revealed azoospermia and USS showed bilateral grossly abnormal testes replaced to a large extent by multiple mixed echogenic, ill defined nodules with flecks of calcification. Clinically, given the bilateral lesions and his poorly controlled CAH, the testicular lesions were felt to be ACTH-dependent testicular adrenal rest tumours (TART). Owing to overproduction of adrenal androgens, his serum gonadotrophin and testosterone levels were low (FSH 3.2 IU/l (1.0–9.0); LH 2.5 IU/l (1.0–9.0), testosterone 5.3 nmol/l (8.0–27.0); SHBG 22 nmol/l (13–71)). In an attempt to reduce tumour size and improve testicular function, his glucocorticoid therapy was increased by addition of 0.5 mg dexamethasone at night to his total daily dose of 30 mg hydrocortisone. After 20 months of well-controlled CAH, his sperm count improved to 1 million/ml (normal >20 million/ml). His semen were cryopreserved. The couple underwent IVF with ICSI using his sperm but unfortunately, she miscarried. They subsequently underwent a further IVF cycle and his wife successfully gave birth to twins. Owing to progressive weight gain and abdominal striae, he discontinued the dexamethasone. His TART failed to regress during dexamethasone treatment but have remained unchanged in size for the past 5 years. Currently, he has low levels of gonadotrophins and testosterone with raised androsteinedione (23.5 nmol/l (1.3–5.8)) and 17-OHP (234 nmol/l (2.0–9.0)) indicative of poor control. Interestingly, however, he has very low levels of DHEAS 1.8 μmol/l (2.9–12.0). We are considering adjuvant testosterone replacement in view of his residual poor libido and lethargy.

In summary, in CAH, chronic gonadotrophin suppression consequent to increased adrenal androgens frequently underlies the failure in spermatogenesis. Physiological glucocorticoid replacement may be insufficient to suppress adrenal androgen production. In such individuals, fecundity may be improved by a transient increase in glucocorticoid replacement.