Carlos Eduardo Seraphim, Ana Pinheiro Machado Canton, Luciana Montenegro, Maiara Ribeiro Piovesan, Delanie B Macedo, Marina Cunha, Aline Guimaraes, Carolina Oliveira Ramos, Anna Flavia Figueiredo Benedetti, Andrea de Castro Leal, Priscila C Gagliardi, Sonir Antonini, Mirta Gryngarten, Andrea J Arcari, Ana Paula Abreu, Ursula B Kaiser, Leandro Soriano-Guillén, Arancha Escribano-Muñoz, Raquel Corripio, José I Labarta, Lourdes Travieso-Suárez, Nelmar Valentina Ortiz-Cabrera, Jesús Argente, Berenice B Mendonca, Vinicius N Brito, Ana Claudia Latronico
CONTEXT: Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP). OBJECTIVE: To describe the clinical and hormonal features of a large cohort of patients with CPP due to MKRN3 mutations and compare the characteristics of different types of genetic defects. PATIENTS/METHODS: Multiethnic cohort of 716 patients with familial or idiopathic CPP screened for MKRN3 mutations using Sanger sequencing...
December 31, 2020: Journal of Clinical Endocrinology and Metabolism