52例原发性闭经患者的细胞遗传学及临床特征分析

发布时间：2018-06-23 11:25

本文选题：原发性闭经 + 细胞遗传学　；参考：《生殖医学杂志》2016年09期

【摘要】：目的通过分析原发性闭经患者的细胞遗传学及临床特征,探讨原发性闭经与染色体异常的关系。方法对2014年10月至2016年3月在江苏省人民医院妇科门诊就诊的52例原发性闭经患者进行染色体核型及临床特征分析。结果 52例原发性闭经患者中染色体核型正常(46,XX)者27例,占51.92%(27/52);核型异常者25例,占48.08%(25/52)。25例异常核型中,性染色体异常21例(84.00%,主要为45,XO、45,X嵌合体和46,XY),常染色体异常4例(16.00%)。临床诊断为特纳综合征(Turner’s综合征,16例)、46,XY单纯性腺发育不全(Swyer’s综合征,5例)、苗勒管发育不全综合征(MRKH综合征,8例)、嗅觉缺失综合征(Kallmann’s综合征,4例)、特发性低促性腺激素性腺功能减退症(IHH,15例)和常染色体异常(4例)。结论染色体异常是原发性闭经的重要病因之一,其中性染色体异常最常见,包括Turner’s综合征和Swyer’s综合征,而MRKH综合征、Kallmann’s综合征以及IHH患者的核型正常。因此对原发性闭经患者常规进行染色体核型检查重要且必要,早期行病因诊断,可为下一步临床诊治提供依据。
[Abstract]:Objective to investigate the relationship between primary amenorrhea and chromosomal abnormalities by analyzing the cytogenetic and clinical features of primary amenorrhea. Methods from October 2014 to March 2016, the karyotype and clinical characteristics of 52 patients with primary amenorrhea who were admitted to the gynecological clinic of Jiangsu Provincial people's Hospital were analyzed. Results among 52 patients with primary amenorrhea, 27 (51.92%) had normal karyotype (46X), 25 (48.08%) had abnormal karyotype (25 / 52), 21 (84.00%) had sex chromosome abnormality (44.00%), 4 (16.00%) had autosomal abnormality. The clinical diagnosis was Turner's syndrome (16 cases), simple gonadal dysplasia (5 cases), Muller canal dysplasia syndrome (MRKH syndrome, 8 cases), and olfactory deficiency syndrome (Kallmanntans syndrome, 4 cases), and the clinical diagnosis was as follows: 46 cases of gonadal dysplasia (Swyerhis syndrome, 5 cases), 8 cases of Muller's canal dysplasia syndrome (MRKH syndrome, 8 cases), and 4 cases of olfactory deficiency syndrome (Kallmannus syndrome). There were 15 cases of hypogonadotropin hypogonadism (IHH) and 4 cases of autosomal abnormality. Conclusion chromosomal abnormalities are one of the most important causes of primary amenorrhea, and the most common ones are neutral chromosomal abnormalities, including Turnerers syndrome and Swyerhis syndrome, while the karyotype of MRKH patients with Kallmanntans syndrome and IHH is normal. Therefore, it is important and necessary to routine chromosome karyotype examination in primary amenorrhea patients. Early etiological diagnosis can provide basis for clinical diagnosis and treatment in the next step.
【作者单位】：江苏省人民医院/南京医科大学第一附属医院江苏省妇幼保健院妇产科;
【分类号】：R711.51

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