X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

[x-linked adrenoleukodystrophy]

We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD ), with special emphasis on the biochemical and clinical pattern of hypogonadism . A patient , with primary adrenal insufficiency since the age of 5 years , developed progressive neurological symptoms at the age of 29 . Diagnosis of X-ALD was established by elevated serum very long chain fatty acids (VLCFAs ) and genetic testing . His sexual body hair was sparse . Hormonal investigations revealed normal testosterone and inappropriately elevated LH levels . Androgen receptor gene analysis was negative for mutations or polymorphic variants associated with decreased receptor activity . Signs of hypogonadism in patients with confirmed X-ALD are not exclusively due to primary testicular failure . Tissue specific androgen resistance represents an alternative possibility . Since no loss -of-function mutations were detected in the androgen receptor , it is speculated that the patient 's androgen resistance could be part of a functional defect mediated through VLCFA accumulation at the testosterone receptor and /or post-receptor levels .