Genetic studies further confirmed the absence of theSRYgene, and the absence of mutation of the CYP21A2 gene and identified the mutation of two genes: GnRHR, autosomal recessive, heterozygous mutation missense, encoding for hypogonadism hypogonadal 7 without anosmia, and PROKR2 autosomal dominant missense mutation responsible for hypogonadism hypogonadotropic 3 with or without anosmia. Here, GNRHR is linked to Kallmann syndrome.