ea0049gp153 | Neuroendocrinology & Growth Hormones | ECE2017
Xu Cheng
, Cassatella Daniele
, Sloot Almer van der
, Hauschild Michael
, Quinton Richard
, De Geyter Christian
, Fluck Christa
, Feller Katrin
, Bartholdi Deborah
, Nemeth Attila
, Halperin Irene
, Djurdjevic Sandra Pekic
, Papadakis Georgios
, Dwyer Andrew
, Marino Laura
, Pignatelli Duarte
, Huang Carol
, Niederlander Nicolas
, Acierno James
, Pitteloud Nelly
Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...