Article
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
European journal of endocrinology - 1 Apr 2018
Cassatella Daniele, Howard Sasha R, Acierno James S, Xu Cheng, Papadakis Georgios E, Santoni Federico A, Dwyer Andrew A, Santini Sara, Sykiotis Gerasimos P, Chambion Caroline, Meylan Jenny, Marino Laura, Favre Lucie, Li Jiankang, Liu Xuanzhu, Zhang Jianguo, Bouloux Pierre-Marc, Geyter Christian De, Paepe Anne De, Dhillo Waljit S, Ferrara Jean-Marc, Hauschild Michael, Lang-Muritano Mariarosaria, Lemke Johannes R, Flück Christa, Nemeth Attila, Phan-Hug Franziska, Pignatelli Duarte, Popovic Vera, Pekic Sandra, Quinton Richard, Szinnai Gabor, l'Allemand Dagmar, Konrad Daniel, Sharif Saba, Iyidir Özlem Turhan, Stevenson Brian J, Yang Huanming, Dunkel Leo, Pitteloud Nelly
Abstract excerpt
OBJECTIVE: Congenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is poorly understood....
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