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目的探讨不完全型P450 17α酶(17α羟化酉每/17,20裂解酶)缺乏症(17 OHD)的临床特征、鉴别诊断和处理方法。方法回顾性分析北京协和医院6例不完全型17 OHD 的临床特征,并通过文献复习讨论该病的发病机制和典型的临床特征。结果 6例中4例为46,XX 不完全型17 OHD 患者,其临床特征包括女性表型、不同程度的乳房发育、阴毛少、月经稀发或继发闭经、反复发作的卵巢囊肿、性腺功能低下伴持续性血清孕酮和(或)17α羟孕酮水平升高、合并或不合并低钾性高血压;另2例为46,XY 不完全型17 OHD 患者,伴有不同程度的外生殖器性别不清和低钾性高血压。结论不完全型17 OHD 是一种极为罕见的先天性甾体合成酶缺乏,临床上出现月经异常、性发育幼稚、反复发作的卵巢囊肿或外生殖器性别不清时应考虑此病。
Objective To investigate the clinical features, differential diagnosis and treatment of incomplete P450 17α enzyme (17α hydroxylamine / 17,20 lyase) deficiency (17 OHD). Methods Retrospective analysis of Beijing Union Medical College Hospital, 6 cases of incomplete 17 OHD clinical features, and reviewed the literature review of the pathogenesis of the disease and typical clinical features. Results Of the 6 cases, 4 cases were 46 and XX incomplete 17 OHD. The clinical features included the female phenotype, different degrees of breast development, less pubic hair, oligomenorrhea or secondary amenorrhea, recurrent ovarian cysts, gonadal function Low with persistent serum progesterone and / or 17α hydroxyprogesterone levels, with or without hypokalemia; the other two cases of 46, XY incomplete 17 OHD patients, accompanied by varying degrees of external genitalia Unclear gender and hypokalemia. Conclusion Incomplete type 17 OHD is an extremely rare congenital lack of steroid synthase. It is clinically abnormal in menstruation and has sexual development naïve. Recurrent ovarian cyst or external genitalia should be considered when sex is unclear.