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21-羟化酶缺陷症(21-OHD)占先天性肾上腺皮质增生症(CAH)的大半,历来将该病作为主要的肾上腺疾病,进行了许多临床、内分泌学等方面的研究。特别是失盐型于生后不久即出现致命的电解质异常,早期诊治是不可缺少的。日本自去年将其作为新生儿筛查的疾病之一,普遍采用滤纸法测定血中17-羟孕酮(17-OHP)。与这些称之为典型的21-OHD的CAH相对应,把小儿后期或青春期以后开始出现男性化的,称为肾上腺类固醇合成异常症。最近,以迟发型或非典型肾上腺皮质增生症等各种命名的CAH引起了人们的注目。非典型的21-羟化酶缺陷症非典型的21-羟化酶缺陷症(NC21-OHD)与典型的21-OHD不同,该症于女孩的胎儿期
21-OHD (21-OHD), which accounts for most of the patients with congenital adrenal hyperplasia (CAH), has traditionally been used as a major adrenal disease for many clinical and endocrinological studies. In particular, salt loss occurs soon after birth, a fatal electrolyte abnormalities, early diagnosis and treatment is indispensable. Japan since last year as one of the neonatal screening diseases, commonly used filter paper method for the determination of 17-hydroxyprogesterone (17-OHP) in the blood. Corresponding to these CAHs, which are typically referred to as 21-OHD, masculine onset later in life or later in adolescence is called adrenal steroid synthesis abnormality. Recently, variously named CAHs such as delayed type or atypical adrenal hyperplasia have drawn attention. Atypical 21-hydroxylase deficiency Atypical 21-hydroxylase deficiency (NC21-OHD) is different from the typical 21-OHD in that the girl’s fetal stage