Late-onset type of 21-hydroxylase deficiency in childhood.
It was recently proposed that congenital and late-onset 21-hydroxylase deficiency are caused by two distinct recessive allelic genes. Although both genes are associated with the HLA system, only the late-onset type was found to be linked with the antigens B14 and DR1. Biochemical and immunological studies were conducted in two families with children suffering from 21-hydroxylase deficiency of postnatal onset. In the first family, of Jewish Ashkenazic origin, a 2 1/2-yr-old girl presenting with clitoromegaly was found to be homozygous for the antigens B14 and DR1. In the second family, of Arabic origin, all the children, their parents and a paternal aunt were clinically and/or biochemically affected, carrying the B14, but not the DR1 antigen on one or both HLA haplotypes. These data suggest that some cases of simple virilizing 21-hydroxylase deficiency in childhood are related to the late-onset type of 21-hydroxylase deficiency.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics; D015235:HLA-B Antigens; D059909:HLA-B14 Antigen; D015798:HLA-DR1 Antigen; D000949:Histocompatibility Antigens Class II / Q000032:analysis / Q000235:genetics; D006801:Humans; D006908:Hydroxyprogesterones / Q000032:analysis; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013250:Steroid Hydroxylases / Q000172:deficiency*; D014770:Virilism / Q000209:etiology
D006680:HLA Antigens; D015235:HLA-B Antigens; D059909:HLA-B14 Antigen; D015798:HLA-DR1 Antigen; D000949:Histocompatibility Antigens Class II; D006908:Hydroxyprogesterones; D013250:Steroid Hydroxylases