21羟化酶缺陷占先天性肾上腺皮质增生症的90%以上,为酶缺陷导致激素合成异常,雄激素过高。迟发型者因常在青春期发病,病情轻,表现为月经稀发、闭经、多毛和不育。系6号染色体短臂上基因缺陷的隐性遗传病。此基因与HLA基因连锁。基因点突变,基因转变,不等交换或多态性均可导致基因缺失而致病。 21 hydroxylase deficiency accounted for more than 90% of adrenal hyperplasia, enzyme deficiency caused by abnormal hormone synthesis, androgen excess. Delayed type often due to onset in adolescence, mild illness, manifested as oligomenorrhea, amenorrhea, hirsutism and infertility. Department of chromosome 6 short arm genetic defects in the recessive genetic disease. This gene is linked to the HLA gene. Gene point mutations, gene changes, unequal exchange or polymorphism can lead to gene deletion and disease.