ea0022h2.4 | Oral Communications Highlights 2 | ECE2010
Young Jacques
, Bouligand Jerome
, Francou Bruno
, Raffin-Sanson Marie-Laure
, Gaillez Stephanie
, Jeanpierre Marc
, Brailly-Tabard Sylvie
, Guiochon-Mantel Anne
Missense loss-of-function mutations in TAC3 and TACR3, the genes encoding neurokinin B (NKB) and its receptor NK3R, respectively, were recently discovered in kindreds with non syndromic normosmic congenital hypogonadotropic hypogonadism (nCHH), thus identifying a fundamental role of this pathway in the human gonadotrope axis.We investigated the consequences on gonadotrope axis of TAC3 and TACR3 invalidations in adult patients ...