The gonadotropin-releasing hormone (GnRH)-1 gene, the GnRH receptor gene, and their promoters in patients with idiopathic hypogonadotropic hypogonadism with or without resistance to GnRH action

被引：18

作者：

Vagenakis, GA

Sgourou, A

Papachatzopoulou, A

Kourounis, G

Papavassiliou, AG

Georgopoulos, NA ^{[1
]}

机构：

[1] Univ Patras, Sch Med, Dept Obstet & Gynecol, Div Reprod Endocrinol, Rion 26500, Greece

[2] Univ Patras, Sch Med, Dept Internal Med, Div Endocrinol, Rion 26500, Greece

[3] Univ Patras, Sch Med, Dept Biol, Rion 26500, Greece

[4] Univ Patras, Sch Med, Dept Biochem, Rion 26500, Greece

来源：

FERTILITY AND STERILITY | 2005年 / 84卷 / 06期

关键词：

D O I：

10.1016/j.fertnstert.2005.06.031

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The study included 26 patients with idiopathic hypogonadotropic hypogonadism (24 sporadic and 2 familial). The Pro146Ser mutation was identified in the gonadotropin-releasing hormone receptor (GnRHR) gene in two sisters as well as in their mother, and one polymorphism in the GnRH I gene (the Trp16Ser) was identified in four patients. No mutations in transcription factor-binding sites of their promoters were identified. Three patients (one male and two sisters) were found with resistance to GnRH action. No mutations were identified in the male, whereas in the females the mutation Pro146Ser in the GnRHR was identified in heterozygosity.

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页码：1762 / 1765

页数：4

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