Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy.
Testicular and adrenal function were evaluated in 12 patients with adrenoleukodystrophy and 2 patients with adrenomyeloneuropathy. Although only 5 subjects had clinical symptoms suggesting adrenal insufficiency, an additional 5 showed laboratory evidence of reduced adrenal reserve. 9 of the 14 patients developed neurological deficits prior to the onset of clinical or biological adrenal insufficiency. In the remaining 5 patients, adrenal insufficiency antedated the appearance of neurological symptoms; 2 of these 5 patients had only laboratory evidence of hypoadrenocorticism, and 3 had both clinical and laboratory abnormalities. None of the prepubertal patients had detectable signs of testicular insufficiency, while 3 of the 7 pubertal/adult patients had elevated serum LH or FSH levels. This mild testicular deficiency was seen only in association with clinical adrenal insufficiency and significant neurological impairment.
D015065:17-Hydroxycorticosteroids / Q000097:blood; D000293:Adolescent; D000302:Adrenal Cortex / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone; D000326:Adrenoleukodystrophy / Q000097:blood / Q000503:physiopathology*; D000328:Adult; D000375:Aging; D000450:Aldosterone / Q000097:blood; D000728:Androgens / Q000097:blood; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000503:physiopathology*; D006065:Gonadotropins, Pituitary / Q000097:blood; D006801:Humans; D008297:Male; D008875:Middle Aged; D013737:Testis / Q000503:physiopathology*
D015065:17-Hydroxycorticosteroids; D000728:Androgens; D006065:Gonadotropins, Pituitary; D000450:Aldosterone; D000324:Adrenocorticotropic Hormone