Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates

Autor: Raivio, Taneli, Miettinen, Päivi J.

Publikováno v: In Best Practice & Research Clinical Endocrinology & Metabolism June 2019 33(3)

Constitutional delay of puberty versus congenital hypogonadotropic hypogonadism: Genetics, management and updates

Autor: Päivi J. Miettinen, Taneli Raivio

Publikováno v: Best Practice & Research Clinical Endocrinology & Metabolism. 33:101316

Delayed puberty (DP) affects approximately 2% of adolescents. In the vast majority of patients in both sexes, it is due to constitutional delay of growth and puberty (CDGP), a self-limited condition in which puberty starts later than usual but progre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a49d8776fc5008668218ca235db208e
https://doi.org/10.1016/j.beem.2019.101316

Disorders of sex development and hypogonadism: Genetics, mechanism, and therapies

Autor: Ana Claudia Latronico, Gil Guerra-Júnior, Rodolfo Rey, Olaf Hiort

Publikováno v: International Journal of Endocrinology
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
International Journal of Endocrinology, Vol 2012 (2012)

Disorders of sex development (DSD) and hypogonadism are genetically heterogeneous and include a broad spectrum of phenotypes. Recent advances in biology and medicine have introduced impressive improvements in both clinical management and structured r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a8599a9a1ea8848d576599ea8d395f
https://www.hindawi.com/journals/ije/2012/820373/

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

Autor: Konstantina Chachlaki, Andrea Messina, Virginia Delli, Valerie Leysen, Csilla Maurnyi, Chieko Huber, Gaëtan Ternier, Katalin Skrapits, Georgios Papadakis, Sonal Shruti, Maria Kapanidou, Xu Cheng, James Acierno, Jesse Rademaker, Sowmyalakshmi Rasika, Richard Quinton, Marek Niedziela, Dagmar L’Allemand, Duarte Pignatelli, Mirjam Dirlewander, Mariarosaria Lang-Muritano, Patrick Kempf, Sophie Catteau-Jonard, Nicolas J. Niederländer, Philippe Ciofi, Manuel Tena-Sempere, John Garthwaite, Laurent Storme, Paul Avan, Erik Hrabovszky, Alan Carleton, Federico Santoni, Paolo Giacobini, Nelly Pitteloud, Vincent Prevot

Publikováno v: Science Translational Medicine
Science Translational Medicine, 2022, 14 (665), pp.eabh2369. ⟨10.1126/scitranslmed.abh2369⟩
Science translational medicine, vol. 14, no. 665, pp. eabh2369

The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4b9ba2a2f53ed6983bfc3208da7475d
https://www.hal.inserm.fr/inserm-03841246

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

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

Publikováno v: European Journal of Endocrinology
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; ... (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European journal of endocrinology, 178(4), pp. 377-388. BioScientifica Ltd. 10.1530/EJE-17-0568
European journal of endocrinology, vol. 178, no. 4, pp. 377-388

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 betwe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41916f2f017d502984a978a4f638e0e4
https://doi.org/10.1530/ey.15.7.8