Central precocious puberty caused by mutations in the imprinted gene MKRN3
Abreu, Ana Paula × Dauber, Andrew Macedo, Delanie B Noel, Sekoni D Brito, Vinicius N Gill, John C Cukier, Priscilla Thompson, Iain R Navarro, Victor M Gagliardi, Priscila C Rodrigues, Tânia Kochi, Cristiane Longui, Carlos Alberto Beckers, Dominique de Zegher, Francis Montenegro, Luciana R Mendonca, Berenice B Carroll, Rona S Hirschhorn, Joel N Latronico, Ana Claudia Kaiser, Ursula B #
New England Journal of Medicine vol:368 issue:26 pages:2467-75
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.