Vagenakis George A, Sgourou Argyro, Papachatzopoulou Adamantia, Kourounis George, Papavassiliou Athanasios G, Georgopoulos Neoklis A
Division of Endocrinology, Department of Internal Medicine, University of Patras Medical School, Rio, Greece.
Fertil Steril. 2005 Dec;84(6):1762-5. doi: 10.1016/j.fertnstert.2005.06.031.
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 GnRH1 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.
该研究纳入了26例特发性低促性腺激素性性腺功能减退患者（24例散发性和2例家族性）。在两名姐妹及其母亲的促性腺激素释放激素受体（GnRHR）基因中鉴定出Pro146Ser突变，在4例患者中鉴定出GnRH1基因中的一种多态性（Trp16Ser）。未在其启动子的转录因子结合位点发现突变。发现3例患者（1例男性和2例姐妹）对GnRH作用有抵抗。男性未发现突变，而女性中在GnRHR中鉴定出杂合性的Pro146Ser突变。
