肾上腺皮质增生综合征(国外英文资料).docVIP

肾上腺皮质增生综合征(国外英文资料) Congenital adrenal cortical hyperplasia · OMIM: 201910? · heredity: AR · common name: adrenal genital syndrome or adrenal allergy Gene name: CYP21A2? Chromosome location: 6p21. 3 Etiology and pathogenesis Congenital adrenal cortex hyperplasia (congenital adrenal hyperplasia, CAH) is caused by a genetic defect synthetase congenital adrenal cortical variety of steroid hormone activity caused by the lack of a group of autosomal recessive genetic disease. Due to the deficiencies of some enzyme in glucocorticoid synthesis, the abnormal results of the abnormal results of the salt corticosteroids, glucocorticoids, or sex hormones were shown. Ninety-five percent of CAH patients are caused by mutations in the CYP21A2 gene. Enzyme defects root cause is due to the controllable enzymatic synthesis and gene mutation, these enzymes defect on the one hand lead to the result of the mineralocorticoid terminal product, sugar cortical hormone aldosterone terminal product cortisol is insufficient, the former deficiency can cause a series of the performance of the loss of salt, and cortisol deficiency can cause feedback pituitary gland to secrete adrenocorticotropic hormone (ACTH) increased, stimulate the adrenal cortex hyperplasia, ACTH have weak role in melanocyte stimulating hormone (MSH), causing pigmentation; Enzyme, on the other hand, leading to defects by mineralocorticoid, glucocorticoid and sex hormone synthesis pathway of intermediate accumulation, cause virilization pseudo precocious puberty or sexual naivete, men or women or have high blood pressure, etc. Molecular mechanisms: almost all CYP21 mutations are the result of a recombination of CYP21 and CYP21P (unequal exchange or conversion). About 20 percent of mutated alleles are missing mutations. About 75 percent of the mutated alleles are the result of gene transfer. Thirty-two percent of the missing salt-type patients had a major deletion or conversion mutation in one of the alleles, and 56 percent of