KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

Autor: Cheng Xu, Andrea Messina, Emmanuel Somm, Hichem Miraoui, Tarja Kinnunen, James Acierno, Nicolas J Niederländer, Justine Bouilly, Andrew A Dwyer, Yisrael Sidis, Daniele Cassatella, Gerasimos P Sykiotis, Richard Quinton, Christian De Geyter, Mirjam Dirlewanger, Valérie Schwitzgebel, Trevor R Cole, Andrew A Toogood, Jeremy MW Kirk, Lacey Plummer, Urs Albrecht, William F Crowley, Moosa Mohammadi, Manuel Tena‐Sempere, Vincent Prevot, Nelly Pitteloud

Publikováno v: EMBO Molecular Medicine, Vol 9, Iss 10, Pp 1379-1397 (2017)

Abstract Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin‐releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (FGFR1) is the most frequently mutate

Externí odkaz: https://doaj.org/article/7a254787799e445f8c77305b0142a29e

A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay

Autor: Thérèse Bouthors, Andrew A. Dwyer, Cheng Xu, Céline Richard, Sophie Stoppa-Vaucher, Eglantine Elowe-Gruau, Daniele Cassatella, Franziska Phan-Hug, Almer M. van der Sloot, Maria-Christina Antoniou, Michael Hauschild, Nelly Pitteloud, James S. Acierno

Publikováno v: Annals of pediatric endocrinology & metabolism, vol. 24, no. 1, pp. 49-54
Annals of Pediatric Endocrinology & Metabolism

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth and development, genital hypoplasi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d7dd78702ceacf10d4b6eefac6c311f
https://doi.org/10.6065/apem.2019.24.1.49

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

Autor: Andrew A. Dwyer, Cheng Xu, Federico Santoni, Samuel A. Malone, Gaetan Ternier, Nicolas J Niederländer, Taneli Raivio, Sara Santini, Daniele Conte, Johanna Tommiska, Filippo Casoni, Kristiina Pulli, Daniele Cassatella, Andrea Messina, Nelly Pitteloud, Johanna Känsäkoski, Giorgio R. Merlo, Yoav Gothilf, Kirsi Vaaralahti, Yisrael Sidis, James S. Acierno, Paolo Giacobini

Publikováno v: Am J Hum Genet

Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to a severe gonadotropin-releasing hormon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::389f39ff315ce6f9494670ffba8a9ff0

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

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

Autor: Nelly Pitteloud, Cheng Xu, Franziska Phan-Hug, James S Acierno, Daniele Cassatella, Andrew A. Dwyer, Gerasimos P. Sykiotis, Mariarosaria Lang-Muritano, Moosa Mohammadi

Publikováno v: Clinical Genetics

Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by gonadotropin-releasing hormone deficiency. Low plasma testosterone levels and low gonadotropins during min

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e48fc5cb5222d3e5bdc5dcfee9a5164
https://www.zora.uzh.ch/id/eprint/150515/