Kleiman-Podlipsky J, Cymet-Wulfovych D, Zafra-de la Rosa G, Cherem-Cherem B
Ginecol Obstet Mex. 1996 Oct;64:455-8.
Steroid 11 beta-hydroxylase deficiency is an autosomal recessive hereditary defect and one of the causes of congenital adrenal hyperplasia. Prenatal exposure to excess androgens results in virilization of the female fetus. Newborn males have normal genitalia. Postnatally, untreated females as well as males present with signs of androgen excess. Three forths of classic 21-hydroxylase deficiency cases do not effectively synthesize aldosterone and are salt-wasting, a condition that is potentially fatal. With carefully supervised medical treatment, congenital adrenal hyperplasia patients have the capacity for normal puberty and fertility.
类固醇11β-羟化酶缺乏症是一种常染色体隐性遗传缺陷，也是先天性肾上腺皮质增生症的病因之一。胎儿期暴露于过量雄激素会导致女性胎儿男性化。新生儿男性生殖器正常。出生后，未经治疗的女性和男性都会出现雄激素过多的症状。四分之三的典型21-羟化酶缺乏症患者不能有效合成醛固酮，属于失盐型，这种情况可能会致命。经过精心监督的药物治疗，先天性肾上腺皮质增生症患者能够正常进入青春期并具备生育能力。
