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 siste...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.展开更多
文摘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.
