Abstract
Two brothers (pt.1 and 2) presented with hyperpigmentation at 5,and AD at 8yrs.Basal cortisol(F) was low or normal (102;333),but did not respond to ACTH(113;336nmol/l).They were placed on substitution therapy and reevaluated at age 15 and 13 yrs. Puberty had developed in pt.1(P5,testicular volume 8ml), but not yet in pt.2.Both had no neurological symptoms. ACTH was increased(322;315ng/l),F low or normal(236;364),and DHA low(4.4;2.1nmol/l).Serum Ca,P,PTH,testosterone,and aldosterone,PRA,plasma and urinary adrenaline and noradrenaline before and after exercise,and LH and FSH before and after LHRH were normal in both.Antibodies against adrenal tissue were absent.A maternal uncle(pt.3) aged 35yrs also had hyperpigmentation since age 4,and AD since age 12yrs. without neurological symptoms,and was on long-standing substitution. Very long chain fatty acids(C24-26) were in the hemizygote range for ALD in the pts.,and in the heterozygote range in 3 asymptomatic obligate female carriers (mother of pts.1 and 2,daughters of pt. 3).This additional family with ALD without neurological manifestations suggests that all males with unexplained AD have to be investigated for ALD. Supported by the Swiss National Science Foundation (Grants No. 3.959-0.80 and 3.874-0.83).
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Atares, M., Boltshauser, E., Moser, H. et al. Familial X-linked Addison's disease (AD) without neurological symptoms as an expression of adrenoleukodystrophy (ALD). Pediatr Res 18, 1225 (1984). https://doi.org/10.1203/00006450-198411000-00144
Issue Date:
DOI: https://doi.org/10.1203/00006450-198411000-00144