ea0032p649 | Male reproduction | ECE2013
Maione Luigi
, Albarel Frederique
, Bouchard Philippe
, Gallant Megan
, Flanagan Colleen A
, Bobe Regis
, Cohen-Tannoudji Joelle
, Pivonello Rosario
, Colao Annamaria
, Brue Thierry
, Lombes Marc
, Millar Robert P
, Young Jacques
, Guiochon-Mantel Anne
, Bouligand Jerome
Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare reproductive disease leading to lack of puberty and infertility. Loss-of-function mutations of GNRH1 gene are a very rare cause of autosomal recessive nCHH. R31C GNRH1 is the only missense mutation that affects the conserved GnRH decapeptide sequence. This mutation was identified in a CpG islet in nine nCHH subjects from four unrelated families, giving evidence for a putative ‘hot spot&#...