【摘要】 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。更多还原

【Abstract】 Objective:To investigate the clinical characteristics and gene diagnosis of female patients with 21 hydroxylase deficiency(21-OHD). Methods:Based on their Clinical data and gene detection results to compare and analyse 3 cases of female 21-OHD in Nanjing Maternity and Child Health Care Hospital from December,2011 to April,2014. Results:It turned out that 3 patients had symptoms of hyperandrogenemia and infertility,2 cases had abnormal menstruation and adult height. And the endocrine examination results showed that 3 patients had high levels in serum androgen,17-hydroxyl progesterone(17-OHD)and progesterone and 2 had lower cortisol,higher adrenocorticotrophic hormone(ACTH). According to the medical detection,two of them were diagnosed as simple type 21-OHD,one was atypical single mutation(simple type). By receiving glucocorticoid therapy,3 patients had lower level of serum androgen,and all were back to normal menstrual. By now,two patients are pregnant and the other delivered successfully. Conclusion:Different mutation sites resulted in different clinical features. It was hard to tell non-classical 21-OHD from polycystic ovary syndrome(PCOS).The highly suspicious patient should be detected by genetic testing,so as to early diagnose and give appropriate treatment.更多还原