HLA LINKAGE AND B14,DR1,BFS HAPLOTYPE ASSOCIATION WITH THE GENES FOR LATE ONSET AND CRYPTIC 21-HYDROXYLASE DEFICIENCY

  • 1 January 1981
    • journal article
    • research article
    • Vol. 33  (4) , 540-550
Abstract
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH-def) has been established to be an HLA-linked, recessive monogenetic disease. Two nonclassical forms of 21-OH-def have also been described: cryptic 21-OH-def, which has been shown to be HLA-linked, and late onset 21-OH-def, for which the status of linkage to HLA was less certain. Studies of 8 additional unrelated probands are described with symptomatic, late onset 21-OH-def, and conclude that this form is also HLA-linked. Both late onset and cryptic 21-OH-def are highly associated with the same HLA antigens and markers (HLA-B14, HLA-DR1, and Bf type S) in individuals from different ethnic and geographical backgrounds. Late onset and cryptic 21-OH-def appear to occur in individuals with 1 classical 21-OH-def (21-OHCAH) allele who in addition have another 21-OH-def allele, as well as in individuals who appear to be homozygous for variant 21-OH-def alleles, and since both late onset and cryptic 21-OH-def appear to occur in the same families, perhaps these syndromes may represent different clinical expressions of similar or identical nonclassical 21-OH-def alleles.