BACKGROUND and OBJECTIVE Mutations in the GnRH receptor (GnRH‐R) gene cause
hypogonadotrophic hypogonadism. Here, we present the molecular studies of the GnRH‐R …

In this study, we describe a patient with a phenotype of complete hypogonadotropic
hypogonadism who presented primary failure of pulsatile GnRH therapy, but responded to …

We describe a woman with complete hypogonadotropic hypogonadism and a new
compound heterozygous mutation of the GnRH receptor (GnRHR) gene. A null mutation …

Mutations in the GnRH receptor gene (GNRHR) are a cause of idiopathic hypogonadotropic
hypogonadism. We describe a normosmic female subject with congenital idiopathic …

GnRH regulates the synthesis and release of pituitary gonadotropins. Mutations in the
human GnRH receptor (hGnRHR) gene have been reported in families with …

Objective: To determine if GnRH receptor mutations occur in patients with idiopathic
hypogonadotropic hypogonadism. Design: Patients and controls were studied by molecular …

In the present study, we performed functional analyses of four mutations in the human GnRH
receptor (GnRHR) gene, identified in patients with idiopathic hypogonadotropic …

Objective Mutations in the gonadotropin-releasing hormone receptor (GnRHR) gene are the
cause of isolated hypogonadotropic hypogonadism (HH). We describe the molecular …

The study included 26 patients with idiopathic hypogonadotropic hypogonadism (24
sporadic and 2 familial). The Pro146Ser mutation was identified in the gonadotropin …

Mutations in the GnRH receptor (GnRHR) have been shown to be responsible for a
significant number of autosomic recessive and, less commonly, sporadic cases of idiopathic …