Ana P M Canton, Flávia R Tinano, Leonardo Guasti, Luciana R Montenegro, Fiona Ryan, Deborah Shears, Maria Edna de Melo, Larissa G Gomes, Mariana P Piana, Raja Brauner, Rafael Espino-Aguilar, Arancha Escribano-Muñoz, Alyssa Paganoni, Jordan E Read, Márta Korbonits, Carlos E Seraphim, Silvia S Costa, Ana Cristina Krepischi, Alexander A L Jorge, Alessia David, Lena R Kaisinger, Ken K Ong, John R B Perry, Ana Paula Abreu, Ursula B Kaiser, Jesús Argente, Berenice B Mendonca, Vinicius N Brito, Sasha R Howard, Ana Claudia Latronico
BACKGROUND: Identification of genetic causes of central precocious puberty have revealed epigenetic mechanisms as regulators of human pubertal timing. MECP2, an X-linked gene, encodes a chromatin-associated protein with a role in gene transcription. MECP2 loss-of-function mutations usually cause Rett syndrome, a severe neurodevelopmental disorder. Early pubertal development has been shown in several patients with Rett syndrome. The aim of this study was to explore whether MECP2 variants are associated with an idiopathic central precocious puberty phenotype...
June 26, 2023: Lancet Diabetes & Endocrinology