• Carolina de Oliveira Ramos, Delanie B Macedo, Ana Pinheiro M Canton, Marina Cunha-Silva, Sonir R R Antonini, Monica Freire Stecchini, Carlos Eduardo Seraphim, Tania Rodrigues, Berenice Bilharinho Mendonca, Ana Claudia Latronico, and BritoVinicius NahimeVNUnidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia da Faculdade de Medicina da Universidade de São Paulo e Laboratório de Hormônios e Genética Molecular LIM 42 do Hospital das Clínicas, São Paulo.
• Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia da Faculdade de Medicina da Universidade de São Paulo e Laboratório de Hormônios e Genética Molecular LIM 42 do Hospital das Clínicas, São Paulo, Brazil, carolinaramos50@hotmail.com.
• Neuroendocrinology. 2020 Jan 1; 110 (7-8): 705-713.

IntroductionLoss-of-function mutation of MKRN3 represents the most frequent genetic cause of familial central precocious puberty (CPP). The outcomes of gonadotropin-releasing hormone analog (GnRHa) treatment in CPP patients with MKRN3 defects are unknown.ObjectiveTo describe the clinical and hormonal features of patients with CPP with or without MKRN3 mutations after GnRHa treatment. Anthropometric, metabolic and reproductive parameters were evaluated.Patients And MethodsTwenty-nine female patients with CPP due to loss-of-function mutations in the MKRN3 and 43 female patients with idiopathic CPP were included. Their medical records were retrospectively evaluated for clinical, laboratory, and imaging study, before, during, and after GnRHa treatment. All patients with idiopathic CPP and 11 patients with CPP due to MKRN3 defects reached final height (FH).ResultsAt the diagnosis, there were no significant differences between clinical and laboratory features of patients with CPP with or without MKRN3 mutations. A high prevalence of overweight and obesity was observed in patients with CPP with or without MKRN3 mutations (47.3 and 50%, respectively), followed by a significant reduction after GnRHa treatment. No significant differences in the values of mean FH and target height were found between the 2 CPP groups after GnRHa treatment. Menarche occurred at the expected age in patients with or without CPP due to MKRN3 mutations (11.5 ± 1.3 and 12 ± 0.6 years, respectively). The prevalence of polycystic ovarian syndrome was 9.1% in patients with CPP due to MKRN3 mutations and 5.9% in those with idiopathic CPP.ConclusionAnthropometric, metabolic, and reproductive outcomes after GnRHa treatment were comparable in CPP patients, with or without MKRN3 mutations, suggesting the absence of deleterious effects of MKRN3 defects in young female adults' life.© 2019 S. Karger AG, Basel.

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