非典型21-羟化酶缺陷症研究进展

• 作 者: 朱丹丹 朱岷
• 机 构: 重庆医科大学附属儿童医院,
• 出 处: 儿科药学杂志
• 发表日期: 2016年04期
• 关键词: 羟化酶 hydroxylase 酶缺乏症 羟化 adrenal 单纯男性化型 性早熟 肾上腺 多囊卵巢综合征 雄激素过多

先天性肾上腺皮质增生症(congennital adrenal hyperplasia,CAH)是由于肾上腺皮质激素合成过程中所需的酶缺乏所致的一组常染色体隐性遗传性疾病。21-羟化酶缺乏症(21-hydroxylase deficiency,21-OHD)是CAH最常见的一种,约占90%~95%。根据临床表现的严重程度分为典型类型和非典型类型两种。典型类型发病率

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive inherited diseases caused by the lack of enzymes needed during the adrenal cortical hormone synthesis. 21-hydroxylase deficiency (21-OHD) is the most common CAH, accounting for about 90% to 95%. According to the severity of clinical manifestations are divided into typical types and atypical types of two. Typical type of morbidity