Congenital adrenal hyperplasias.
The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional views of CAH. Examination of the clinical findings in each form of CAH from a molecular genetic perspective simplifies understanding of these complex and closely related syndromes. Because mild forms of CAH are being recognized with increasing frequency, and severely affected patients now survive and reproduce, these disorders are of interest to endocrinologists dealing with all age groups.
Miller
W L
WL
Department of Pediatrics, University of California, San Francisco.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology*; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency / Q000378:metabolism; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013256:Steroids / Q000096:biosynthesis
D013256:Steroids; D003577:Cytochrome P-450 Enzyme System