Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea
Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea
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DOI：
10.1007/s10815-010-9404-9
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发表时间：
2010-06-01
影响因子：
3.1
通讯作者：
Mahale, Smita D.
中科院分区：
文献类型：
--
作者：
Achrekar, Swati K.;Modi, Deepak N.;Mahale, Smita D.
本回顾性研究旨在分析原发性闭经和继发性闭经伴高促性腺激素性性腺功能减退症患者的FSHR基因变异，对86例原发性闭经或继发性闭经患者和100例正常月经周期且有生育能力的印度裔女性进行了回顾性研究。结果表明，原发性闭经和继发性闭经妇女FSHR基因-29位点多态性频率分布与对照组相比均发生改变。FSHR基因-29位点AA基因型可能与FSH水平升高有关。我们在1例原发性闭经患者中发现了一种新的纯合突变（CT）-T-1723（Ala（575）瓦尔），我们的研究结果表明原发性闭经患者血清FSH水平升高与FSHR基因-29位点基因型相关。我们在一名原发性闭经妇女中发现了一种新的纯合突变（CT）-T-1723（Ala（575）瓦尔）。
This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism.Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene.The frequency distribution of polymorphism at -29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at -29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation (CT)-T-1723 (Ala(575)Val) in one woman with primary amenorrhea.Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position -29. We identified a novel homozygous mutation (CT)-T-1723 (Ala(575)Val) in a woman with primary amenorrhea.