Endocrine Abstracts

A 35 year old steel worker with a background of congenital adrenal hyperplasia (CAH) presented with a six month history of bilateral testicular swellings. CAH was diagnosed at 2 weeks of age. He was discharged from the paediatric service at 18 years and remained on an unchanged of hydrocortisone 10mg BD and fludrocortisone 0.25mg OD from that time. Two younger male siblings, of equal stature, and a nephew of 18 months were unaffected. He was normotensive, final height 5 8, with normal virilisation. Testicular ultrasound revealed two testicular swellings suggestive of malignancy. CT adrenals showed bilateral adrenal hyperplasia, the left adrenal more prominent with a focal element. There was no para-aortic or retroperitoneal lymphadenopathy. Alpha-fetoprotein and beta hCG were both within normal range. 17(OH)progesterone was markedly elevated 600 nmol/L (>60), ACTH 220 ng/l (10-55), testosterone 10 nmol/L (10.3-34.5). A right orchidectomy was performed. Histopathology confirmed adrenogenital rest tissue. Postoperative sperm analysis showed total azospermia. In our patient, insufficient hydrocortisone over an 18 year period probably contributed to reduced fertility. Reversible subfertility has recently been reported in a 45 year old man treated with prednisolone 5 mg nocte and hydrocortisone 10 mg tarde(1). He presents an interesting management problem in terms of fertility and secondly, as the diagnosis was made in the pregenetic era, investigation into the particular genetic mutation is underway.
Reference: (1) Tiitinen, A. & Valimaki, M. JCEM Primary Infertility in a 45 year old man with untreated 21-hydroxylase deficiency. Successful Outcome with Glucocorticoid Therapy. 87(6):2442-2445.