21-hydroxylase deficiency: From molecular genetics to clinical presentation

摘要: Congenital adrenal hyperplasia due to deficiency of the enzyme 21-hydroxylase (21-OH), a cytochrome P450 located in endoplasmic reticulum and which catalyzes conversion 17-hydroxyprogesterone 11-deoxycortisol progestene deoxycorticosterone, is distinguished its classical non-classical form also one most common autosomal recessive inherited diseases humans. The appears rate between 1:5000 1:15,000 among live neonates North America Europe, while occurs approximately 0.2% general white population. This especially high Ahskenazi Jews part (ie Italians, Hispanics) Mediterranean populations. Three alleles are associated with 21-OH locus can be combined several ways individuals who either unaffected, heterozygote carriers, or affected disease. Variable signs symptoms hyperandrogenism, such as hirsutism, acne, virilization external genitalia and/or body, short stature, menstrual irregularities, both types disorder. Among genes responsible for synthesis antigens HLA system, exist proven genetic linkage disequilibrium. HLA-Bw47, HLAB5 HLA-B35 haplotypes usually met form, haplotype HLA-B14DR1 recurrent significant advances molecular biology gene analysis over past two decades have led development novel sensitive methods DNA study, polymerase chain reaction southern blot analysis. Thus, it has been revealed that controlled by genes, active CYP21B CYP21A pseudogene. All three forms disease known sequence changes owing mutations isolated proteins whole series translocations deletions material.