论文部分内容阅读
目的探讨原发性闭经与染色体核型异常及性激素水平的关系。方法对我院妇产科门诊2009年1月至2016年6月就诊的118例原发性闭经患者进行染色体核型分析及性激素水平检测。结果 118例原发性闭经患者中检出45例染色体核型异常,异常比例38.14%。其中X染色体数目异常24例、占53.33%;X染色体结构异常14例,占31.11%;X染色体数目伴结构异常5例,占11.11%,含Y染色体2例,占4.44%。原发性闭经患者的FSH和LH明显高于正常对照组,E2明显低于正常对照组,P、T和RPL无明显差异。对原发性闭经患者的临床诊断进行分类,特纳综合征占54.24%(64/118),苗勒管发育不全综合征(MRKH综合征)占11.86%(14/118),嗅觉缺失综合征(KS)占10.17%(12/118),特发性低促性腺激素性腺功能减退症(IHH)占6.78%(32/118),其它占27.12%。结论染色体异常和性激素水平异常均可导致原发性闭经。
Objective To investigate the relationship between primary amenorrhea and chromosomal abnormalities and sex hormone levels. Methods A total of 118 cases of primary amenorrhea in our obstetrics and gynecology clinic from January 2009 to June 2016 were analyzed for karyotype and sex hormone levels. Results A total of 118 cases of primary amenorrhea were detected in 45 cases of chromosomal abnormalities, the abnormal proportion of 38.14%. The number of X chromosome was abnormal in 24 cases, accounting for 53.33%. X chromosome was abnormal in 14 cases (31.11%). The number of X chromosome was associated with structural abnormalities in 5 cases (11.11%), including Y chromosome in 2 cases (4.44%). FSH and LH in patients with primary amenorrhea were significantly higher than those in the normal control group, E2 was significantly lower than the normal control group, P, T and RPL no significant difference. The clinical diagnosis of primary amenorrhea patients were classified, Turner syndrome accounted for 54.24% (64/118), Mullerian hypoplasia syndrome (MRKH syndrome) accounted for 11.86% (14/118), olfactory dysfunction syndrome (KS) accounted for 10.17% (12/118), idiopathic hypogonadotropic hypogonadism (IHH) accounted for 6.78% (32/118), other accounted for 27.12%. Conclusion Chromosomal abnormalities and abnormal sex hormone levels can lead to primary amenorrhea.