Unusual heterozygotes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency confirmed by HLA tissue typing.
In a previous publication, three relatives of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency from two families were considered to be unusual heterozygotes rather than homozygotes with mild clinical manifestations. Their heterozygosity could now be confirmed by HLA tissue typing.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006579:Heterozygote; D006650:Histocompatibility Testing; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency; D010375:Pedigree
D006680:HLA Antigens; D006908:Hydroxyprogesterones; D006899:Mixed Function Oxygenases