A familial case of Kallmann syndrome: novel variants in ANOS1 and GNRHR genes

Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia, stemming from the defective migration of GnRH and olfactory neurons during embryogenesis. This study investigated a multigenerational family with KS, identifying novel mutations in the ANOS1 (c.78_108del, X-linked) and GNRHR (c.974del, autosomal recessive) genes through genetic testing. Affected males carrying the ANOS1 mutations displayed a range of phenotypes, all of which were associated with hypogonadism and varying degrees of anosmia. Furthermore, isolated mutations [...]