Details

Autor(en) / Beteiligte

• 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

Titel

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

Ist Teil von

• The New England journal of medicine, 2013-06, Vol.368 (26), p.2467-2475

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2013

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• Little is known about genetic control of the timing of puberty. This study implicates an imprinted gene, MKRN3, in familial central precocious puberty. The data suggest that the encoded protein inhibits puberty. The onset of puberty is first detected as an increase in the amplitude and frequency of pulses of gonadotropin-releasing hormone (GnRH) after a quiescent period during childhood. The reemergence of pulsatile GnRH secretion leads to increases in the secretion of the gonadotropins, luteinizing hormone and follicle-stimulating hormone (FSH), by the pituitary gland and the consequent activation of gonadal function. 1 Early activation of the hypothalamic–pituitary–gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. . . .