Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment.

Détails

ID Serval
serval:BIB_64433381FE06
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment.
Périodique
Nature Reviews. Endocrinology
Auteur(s)
Boehm U., Bouloux P.M., Dattani M.T., de Roux N., Dodé C., Dunkel L., Dwyer A.A., Giacobini P., Hardelin J.P., Juul A., Maghnie M., Pitteloud N., Prevot V., Raivio T., Tena-Sempere M., Quinton R., Young J.
ISSN
1759-5037 (Electronic)
ISSN-L
1759-5029
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
11
Numéro
9
Pages
547-564
Langue
anglais
Résumé
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH is clinically and genetically heterogeneous, with >25 different causal genes identified to date. Clinically, the disorder is characterized by an absence of puberty and infertility. The association of CHH with a defective sense of smell (anosmia or hyposmia), which is found in ∼50% of patients with CHH is termed Kallmann syndrome and results from incomplete embryonic migration of GnRH-synthesizing neurons. CHH can be challenging to diagnose, particularly when attempting to differentiate it from constitutional delay of puberty. A timely diagnosis and treatment to induce puberty can be beneficial for sexual, bone and metabolic health, and might help minimize some of the psychological effects of CHH. In most cases, fertility can be induced using specialized treatment regimens and several predictors of outcome have been identified. Patients typically require lifelong treatment, yet ∼10-20% of patients exhibit a spontaneous recovery of reproductive function. This Consensus Statement summarizes approaches for the diagnosis and treatment of CHH and discusses important unanswered questions in the field.
Pubmed
Web of science
Open Access
Oui
Création de la notice
15/09/2015 17:26
Dernière modification de la notice
20/08/2019 15:20
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