Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus.
Cerebral sclerosis and Addison disease were observed at age 14 years in a previously healthy sister of an affected boy. Clinical findings and family history established the diagnosis of X-linked adrenoleukodystrophy, which is normallly confined to males. The affected female has a normal karyotype; both X chromosomes are morphologically inconspicuous. Thus, this patient may be the first documented example of clinically manifest adrenoleukodystrophy in a heterozygote, which supports our previous conclusion that this X-linked locus is subject to inactivation.
D000224:Addison Disease / Q000150:complications / Q000235:genetics*; D000293:Adolescent; D002874:Chromosome Mapping; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D012737:Sex Factors; D013577:Syndrome; D014960:X Chromosome