Open AccessCentral Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Author(s) -
Ana Paula Abreu,
Andrew Dauber,
Delanie B. Macedo,
Sekoni D. Noel,
Vinícius Nahime Brito,
John C. Gill,
Priscilla Cukier,
Iain Thompson,
Víctor M. Navarro,
Priscila Gagliardi,
Tânia Maria Barreto Rodrigues,
Cristiane Kochi,
Carlos Alberto Longui,
Dominique Beckers,
Francis de Zegher,
Luciana Ribeiro Montenegro,
Berenice B. Mendonça,
Rona S. Carroll,
Joel N. Hirschhorn,
Ana Claudia Latrônico,
Ursula B. Kaiser
Publication year - 2013
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1302160
Subject(s) - precocious puberty , central precocious puberty , medicine , endocrinology , pulsatile flow , gonadotropin releasing hormone , genomic imprinting , hormone , gene , biology , genetics , luteinizing hormone , gene expression , dna methylation
The onset of puberty is first detected as an increase in pulsatile secretion of gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic-pituitary-gonadal axis results in central precocious puberty. The timing of pubertal development is driven in part by genetic factors, but only a few, rare molecular defects associated with central precocious puberty have been identified.
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