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dc.contributor.authorHoward, SRen_US
dc.contributor.authorDunkel, Len_US
dc.date.accessioned2018-01-09T08:54:32Z
dc.date.available2017-09-18en_US
dc.date.issued2018en_US
dc.date.submitted2017-12-21T10:00:26.808Z
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/31203
dc.description.abstractThe genetic control of puberty remains an important but mostly unanswered question. Late pubertal timing affects over 2% of adolescents and is associated with adverse health outcomes including short stature, reduced bone mineral density, and compromised psychosocial health. Self-limited delayed puberty (DP) is a highly heritable trait, which often segregates in an autosomal dominant pattern; however, its neuroendocrine pathophysiology and genetic regulation remain unclear. Some insights into the genetic mutations that lead to familial DP have come from sequencing genes known to cause gonadotropin-releasing hormone (GnRH) deficiency, most recently via next-generation sequencing, and others from large-scale genome-wide association studies in the general population. Investigation of the genetic control of DP is complicated by the fact that this trait is not rare and that the phenotype is likely to represent a final common pathway, with a variety of different pathogenic mechanisms affecting the release of the puberty "brake." These include abnormalities of GnRH neuronal development and function, GnRH receptor and luteinizing hormone/follicle-stimulating hormone abnormalities, metabolic and energy homeostatic derangements, and transcriptional regulation of the hypothalamic-pituitary-gonadal axis. Thus, genetic control of pubertal timing can range from early fetal life via development of the GnRH network to those factors directly influencing the puberty brake during mid-childhood.en_US
dc.format.extent283 - 291en_US
dc.languageengen_US
dc.language.isoenen_US
dc.relation.ispartofNeuroendocrinologyen_US
dc.rights‘This is the peer-reviewed but unedited manuscript version of the following article: Howard S, R, Dunkel L, The Genetic Basis of Delayed Puberty. Neuroendocrinology 2018;106:283-291 (DOI:10.1159/000481569 ). The final, published version is available at http://www.karger.com/?doi=10.1159/000481569 ’
dc.subjectAdolescent developmenten_US
dc.subjectConstitutional delayen_US
dc.subjectGeneticsen_US
dc.subjectPubertal timingen_US
dc.subjectSelf-limited delayed pubertyen_US
dc.subjectAnimalsen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectHumansen_US
dc.subjectPuberty, Delayeden_US
dc.titleThe Genetic Basis of Delayed Puberty.en_US
dc.typeArticle
dc.rights.holder© 2017 S. Karger AG, Basel
dc.identifier.doi10.1159/000481569en_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/28926843en_US
pubs.issue3en_US
pubs.notesNo embargoen_US
pubs.publication-statusPublisheden_US
pubs.volume106en_US
dcterms.dateAccepted2017-09-18en_US
qmul.funderNovel genes underlying the timing of puberty::Wellcome Trusten_US
qmul.funderNovel genes underlying the timing of puberty::Wellcome Trusten_US


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