Endocrine Abstracts

Although we know the gene alterations associated with KAL 2, at present we still do not know certain mutations of the fibroblast factor receptor 1 gene (FGFR gene) that even show complete penetrance of the syndrome. Kallman syndrome is a genetic disease of embryonic development characterized by the association of hypogonadotropic hypogonadism due to GnRH hormone deficiency because of agenesis or hypoplasia of the olfactory sulci. Three subtypes have been described; the classic...