Endocrine Abstracts

A male with classical salt-wasting congenital adrenal hyperplasia (CAH; 21-hydroxylase deficiency) who was diagnosed in infancy and had normal pubertal growth and development attended the endocrine department for routine follow up in June 2019 (age 26). His current daily medications are hydrocortisone 10 mg on waking, 5 mg at 4 pm and fludrocortisone 200 mg once daily. He also has injectable hydrocortisone sodium phosphate 100mg for emergency use. Over recent years, he reports good energy levels and his weight has been stable. He reports occasional mild postural dizziness. He complained of a pea-sized lump in the left testicle which he had noted 6 months prior and this was confirmed on examination. Blood tests confirmed suboptimal biochemical control of his CAH with raised ACTH (387 ng/l range 0-47), androstenedione (>35 nmol/l range 1.4-9.1) and 17OHP (212.7 nmol/l target range 6.3 to 20 nmol/l) levels, undectable LH (<0.5 iu/l range 1.7-8.6) and FSH (<0.5 iu/l range 1.5-12.4) and a mildly low total and free testosterone levels (7.7 nmol/l range 8.6-29 and 144 pmol/l range 198-669, respectively). Testicular cancer tumour markers were negative. A scrotal ultrasound showed bilateral testicular masses consistent with testicular adrenal rest tissue (TART) and a 0.5 cm left epididymal cyst. Semenalysis at this point demonstrated azoospermia. To improve his CAH biochemical control, for the management of TART and as the patient and his partner expressed a desire to start a family in the coming years, his steroid regimen was adjusted and prednisolone 1mg at night was added. Over coming months, the couple were referred for genetic partner testing and the patients” prednisolone dose was gradually increased up to 3mg to achieve better biochemical control. Further blood tests 5 months later (November 2020) demonstrated a marked improvement in adrenal androgen levels. His LH and FSH levels became detectable and there was a modest improvement in serum testosterone levels. Repeat semenalysis demonstrated a sperm count of 6 million/ml. Serial scrotal ultrasound scans demonstrated no change in the size of the TARTs despite optimisation of CAH control.

Conclusion: Classical CAH is associated with subfertility in men and this is multifactorial. In this case, improving the biochemical control of CAH with escalating glucocorticoid doses has resulted in spermatogenesis and a measurable improvement in his sperm count in just a few months, despite there being no change in the TARTs present on ultrasound.