X-linked adult form of spinal muscular atrophy

Neurological and endocrinological studies were carried out in 8 of 12 male patients with X-linked spinal muscular atrophy. In six investigated cases, gynaecomastia was discovered. First muscle symptoms started between 21 and 44 years of age, at which time the patients observed disturbances in their sexual life. In three cases decreased fertility and in two cases sterility was reported. Diagnostic testicular biopsy showed pronounced involutional changes of the Leydig cells. The plasma testosterone level was decreased, while the levels of luteinizing hormone and prolactine were normal, and the follicle stimulating hormone was at a high normal level. The dexamethasone/human chorionic gonadotrophin test revealed a pronounced decrease in the functional reserve of the Leydig cells. It is suggested that all these anomalies are connected with an increased ratio of oestrogen to androgen level.