[Normosmic idiopathic hypogonadotropic hypogonadism with GnRH receptor mutation(review)].

Abstract excerpt

Mutations in gonadotropin releasing hormone receptor(GnRHR) gene(chromosome location, 4q21.2) cause autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) without anosmia. The spectrum of phenotypes is much broader, the mechanism of which still remains clarified yet. The prevalence may be 2.2% in all families with IHH, but 7.1% in families in which the affected female is present. The frequency may be...

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