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先天性肾上腺增生(OAH)是由一个常染色休隐性基因传递的先天代谢病。不同类型的OAH在临床上表现出不同程度的男性化,以及由于甾类激素生物合成缺欠所引起的盐耗。最普通的一类OAH是由于21-羟化酶缺乏导致皮质醇合成减少所引起的。21-羟化酶缺乏能呈现出单纯的男性肾上腺增生;或者,除呈现为男性化以外,还有由于极度的醛甾酮缺乏所引起的盐耗。后一类型的男性化肾上腺增生是有生命危险的,必须在出生时就辨认出来。作者研究了六个家族(都有两个或更多的孩子患有21-羟化酶缺乏而引起的OAH)
Congenital adrenal hyperplasia (OAH) is an inherited metabolic disease transmitted by an autosomal recessive gene. Different types of OAH show clinically different degrees of masculinity and salt consumption due to lack of steroid hormone biosynthesis. The most common type of OAH is caused by a decrease in cortisol synthesis due to a deficiency in 21-hydroxylase. 21-hydroxylase deficiency can present simple male adrenal hyperplasia; or, in addition to being masculine, there is salt consumption due to extreme aldosterone deficiency. The latter type of masculine adrenal hyperplasia is life-threatening and must be recognized at birth. The authors studied six families (both having OAH due to 21-hydroxylase deficiency with two or more children)