Journal Of Assisted Reproduction And Genetics

eISSN : 1573-7330

Publisher : Springer Science and Business Media LLC

Website : link.springer.com

Nonstop mutation in the kisspeptin 1 receptor (kiss1r) gene causes normosmic congenital hypogonadotropic hypogonadism

Purpose: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder mostly characterized by gonadotropins release and/or action deficiencies. Both isolated (idiopathic hypogonadotropic hypogonadism) and syndromic (Kallmann) forms are identified depending on the olfactory ability. Clinical and genetic heterogeneities of CHH have been widely explored, thus improving our understanding of more...