17α-羟化酶/17,20-裂解酶缺陷症的临诊应对
Chinese Journal of Endocrinology and Metabolism（2014）
Abstract
17α-羟化酶/17,20-裂解酶缺陷症(17 α-hydroxylase/17,20-lyase deficiency,17OHD)是一种罕见的先天性肾上腺皮质增生症,典型的临床表现为低肾素性高血压、低血钾、第二性征不发育、女性原发性闭经、男性假两性畸形等.本文通过对1例经基因测序明确诊断的17OHD患者的临床特点进行分析,并对该病发病机制、临床表现、分子遗传学特点、诊断及治疗等做一文献复习.
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Key words
17α-hydroxylase/17,20-lyase deficiency,CYP17A1 gene,Congenital adrenal hyperplasia,Diagnosis,Treatment
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