蔡雯，谭容容，吴洁

(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，南京　210029)



52例原发性闭经患者的细胞遗传学及临床特征分析

蔡雯，谭容容，吴洁*

(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，南京210029)

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。

原发性闭经；细胞遗传学；染色体核型；临床特征

【Abstract】

Objective：To investigate the relationship between the primary amenorrhea and chromosomal abnormalities through analysis of cytogenetic characteristics and clinical features in patients with primary amenorrhea.

Methods：The chromosomal karyotype detection and clinical characteristics of 52 patients with primary amenorrhea in the Department of Gynecology & Obstetrics of Jiangsu Province Hospital from October 2014 to March 2016 were analyzed.

Results：Twenty seven patients with normal karyotype (46，XX) were found in the 52 patients with primary amenorrhea，accounting for 51.92% (27/52). Twenty five patients were abnormal karyotype，and the proportion of which was 48.08% (25/52). The patients with abnormal karyotype included 21 patients with sex chromosome abnormalities (84.00%，21/25)，which were mainly for 45，XO，46，XY and 45，X chimera，and 4 patients with autosomal karyotype abnormalities (16.00%，4/25). Clinical diagnosis showed as Turner’s syndrome (16 patients)，46，XY pure gonadal dysgenesis (Swyer’s syndrome，5 patients)，Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome，8 patients)，anosmia syndrome (Kallmann’s syndrome，4 patients)，idiopathic hypogonadotropic hypogonadism (IHH，15 patients) and autosomal karyotype abnormalities (4 patients).

Conclusions：Chromosome abnormality is one of the important reasons of primary amenorrhea，of which sex chromosome abnormality is the most common，including Turner’s syndrome and Swyer’s syndrome，while the karyotype of MRKH syndrome，Kallmann’s syndrome and IHH is normal. Therefore the conventional karyotype examination in patients with primary amenorrhea is important and necessary. Early etiological diagnosis should be made in order to provide the basis for clinical diagnosis and treatment of primary amenorrhea.

(JReprodMed2016，25(9)：805-809)

原发性闭经(primary amenorrhea)是指女性年龄超过14岁、第二性征未发育，或年龄超过16岁、第二性征已发育，月经未来潮[1]。原发性闭经发病率约为1/1 000，多为遗传学因素或先天性发育异常引起，约30%患者伴有生殖道异常。……