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目的探讨女性21-羟化酶缺陷症(21-OHD)的临床特点及基因诊断。方法比较分析2011年12月至2014年4月期间就诊于南京市妇幼保健院的3例女性21-OHD患者的临床资料和基因检测结果。结果临床表现:3例均有高雄激素体征、不孕,2例有月经异常、终身高矮;内分泌检查结果提示:3例血清雄激素水平、17-羟孕酮(17-OHD)和孕酮升高;2例皮质醇降低,促肾上腺皮质激素(ACTH)升高;基因诊断结果:2例单纯型21-OHD,1例非经典型21-OHD单发突变(单纯型)。通过糖皮质激素治疗后血清雄激素水平下降,3例均获正常月经,2例成功妊娠,1例已分娩。结论由于基因突变位点不同,女性21-OHD临床表型具有差异性,非经典型21-OHD易与多囊卵巢综合征(PCOS)混淆,基因检测是诊断的金标准,有助于早期筛查及有效治疗。
Objective To investigate the clinical features and gene diagnosis of 21-hydroxylase deficiency (21-OHD) in women. Methods The clinical data and gene test results of 3 female 21-OHD patients treated in Nanjing MCH from December 2011 to April 2014 were compared. Results The clinical manifestations were as follows: 3 cases had signs of Kaohsiung and Hormone, infertility, 2 cases had abnormal menstruation and longevity. Endocrine examination showed that serum androgen level, 17-OHP and progesterone 2 cases of cortisol decreased and adrenocorticotropic hormone (ACTH) increased. The results of gene diagnosis were 2 cases of simple 21-OHD and 1 case of non-classic 21-OHD single mutation (simple type). Serum androgen levels decreased after glucocorticoid therapy, with normal menstruation in 3 cases, successful pregnancy in 2 cases, and childbirth in 1 case. Conclusion The clinical phenotypes of 21-OHD in women are different due to different gene mutation sites. Non-classical 21-OHD is easily confused with PCOS, and genetic testing is the gold standard for diagnosis, which is helpful for early screening Check and effective treatment.