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.
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.
Vagenakis
George A
GA
Division of Endocrinology, Department of Internal Medicine, University of Patras Medical School, Rio, Greece.
Sgourou
Argyro
A
Papachatzopoulou
Adamantia
A
Kourounis
George
G
Papavassiliou
Athanasios G
AG
Georgopoulos
Neoklis A
NA
D000328:Adult; D005192:Family Health; D005260:Female; D007987:Gonadotropin-Releasing Hormone / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011966:Receptors, LHRH / Q000235:genetics* / Q000378:metabolism*
C484844:GNRHR protein, human; D011966:Receptors, LHRH; D007987:Gonadotropin-Releasing Hormone