Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked Adrenoleukodystrophy.

X-linked adrenoleukodystrophy (ALD) is a genetic disorder with neurological and endocrine manifestations, including myelopathy and hypergonadotropic hypogonadism. Many patients experience sexual dysfunction but the underlying cause has not been clarified. The aim of this study was to assess the prevalence of sexual dysfunction and its relationship with biochemical hypergonadotropic hypogonadism (i.e., low testosterone and high luteinizing hormone [LH] levels) and/or myelopathy. Male ALD patients from "the Dutch ALD cohort" at the Amsterdam University Medical Centers were questioned regarding sexual functioning, and underwent neurological examination to assess myelopathy. Testosterone, LH, and follicle-stimulating hormone (FSH) concentrations were analyzed from fasting blood samples. The prevalence of biochemical hypogonadism in the cohort was 4/36 patients (11%), of whom 3 were diagnosed prior to the initiation of this study. Eighteen out of 33 patients (55%), of whom clinical data were collected, experienced sexual dysfunction. Of these patients, 10 (55%) were biochemically eugonadal, 7 (39%) had biochemical subclinical hypogonadism, and 1 had biochemical hypogonadism. Neurological function differed significantly between patients with and without sexual dysfunction, with more severe myelopathy in patients with sexual dysfunction (Expanded Disability Status Scale: 4.8 [IQR 3-6] vs. 0.0 [IQR 0-2]; p < 0.001). In conclusion, we showed that half of all adult male ALD patients experienced sexual dysfunction and the majority of these patients had normal testosterone levels. Neurological impairment appears to play a more important role in these complaints than previously appreciated. We recommend discussing sexual dysfunction regularly, in order to start early and adequate treatment.