Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?
Clinical studies in patients with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) were designed to ascertain the genetics of the salt-wasting component of the disorder. The gene controlling aldosterone biosynthesis may not be the same gene that controls 21-hydroxylase in the adrenal zona fasciculata. This we infer from the following clinical observations: (1) concordance for salt-wasting is not observed in all HLA-identical sibs with CAH; (2) the defect in aldosterone biosynthesis does not persist throughout life as does the fasciculata defect; (3) there is a significantly increased gene frequency of B40 and Bw47 in salt-wasting CAH; (4) obligate heterozygote parents of patients with salt-wasting CAH do not express a partial defect in aldosterone biosynthesis, as they do in the fasciculata. These observations cast doubt on the accepted concept of the autosomal recessive transmission of the glomerulosa 21-hydroxylase deficiency.
D019326:17-alpha-Hydroxyprogesterone; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000235:genetics* / Q000652:urine; D000328:Adult; D000450:Aldosterone / Q000096:biosynthesis / Q000097:blood / Q000652:urine; D002648:Child; D002675:Child, Preschool; D004032:Diet; D005260:Female; D005796:Genes; D006680:HLA Antigens / Q000235:genetics; D015235:HLA-B Antigens; D006579:Heterozygote; D006801:Humans; D006908:Hydroxyprogesterones / Q000097:blood; D007231:Infant, Newborn; D008297:Male; D012964:Sodium / Q000378:metabolism*
D006680:HLA Antigens; D015235:HLA-B Antigens; D006908:Hydroxyprogesterones; D000450:Aldosterone; D019326:17-alpha-Hydroxyprogesterone; D012964:Sodium