伴或不伴促性腺激素释放激素(GnRH)功能抵抗的原发性促性腺激素分泌不足性腺功能减退患者的GnRH-1基因,GnRH受体基因及其启动子

• 作 者: VagenakisG.A Sgourou A Papachatzopoulou A. N.A. Georgopoulos 党慧敏
• 机 构: Department of Obstetrics and Gynaecology Division of Reproductive Endocrinology,University of Patras
• 出 处: 世界核心医学期刊文摘(妇产科学分册)
• 发表日期: 2006年05期
• 关键词: 性腺功能减退 促性腺激素 分泌不足 启动子 受体基因 家族性病 杂合型 散发病例 多态性

The study included 26 patients with idiopathic hypogonadotropic hypogonadism (24 sporadic and 2 familial). ThePro146Ser 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 GnRH1 gene(the Trp16Ser) was identified in four patients. No mutations intranscription 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 inthe male, whereas in the females the mutation Pro146Ser in the GnRHR was identified in heterozygosity.

The study included 26 patients with idiopathic hypogonadotropic hypogonadism (24 sporadic and 2 familial). ThePro146Ser 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 GnRH1 gene ( Three mutations (one male and two sisters) were found with resistance to GnRH action. No mutations were identified inthe male, whereas in the females the mutation Pro146Ser in the GnRHR was identified in heterozygosity.