21-羟化酶缺陷型先天性肾上腺皮质增生症

DEFECTS IN 21-HYDROXYLATION OF CONGENITAL ADRENAL HYPERPLASIA

报告4例儿童21-羟化酶缺陷型先天性肾上腺皮质增生症。3例为单纯男性化型,1例为男性化伴失盐型。讨论了病因、诊断和治疗,重点讨论了鉴别诊断。

Four cases of defects in 21-hydroxylation of congenital hyperplasia have been reported. Three of them were of the simple virilizing type and 1 of the salt-losing and virilizing type. Etiology, diagnosis and treatment of the disease have been discussed. Special emphasis was put on differential diagnosis.