Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Cassatella, Daniele; Howard, Sasha; Acierno, James; Xu, Cheng; Papadakis, Georgios; Santoni, Federico; Dwyer, Andrew; Santini, Sara; Sykiotis, Gerasimos; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; De Geyter, Christian; De Paepe, Anne; Dhillo, Waljit; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes; Fluck, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; Quinton, Richard; Szinnai, Gabor; I'Allemand, Dagmar; Konrad, Daniel; Sharif, Saba; Iyidir, Ozlem; Stevenson, Brian; Yang, Huanming; Dunkel, Leo; Pitteloud, Nelly

doi:10.1530/eje-17-0568

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Cassatella D., Howard S. R., Acierno J. S., Xu C., Papadakis G. E., Santoni F. A., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.178, sa.4, ss.377-388, 2018 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 178 Sayı: 4
Basım Tarihi: 2018
Doi Numarası: 10.1530/eje-17-0568
Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.377-388
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Gazi Üniversitesi Adresli: Evet

Özet

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.