MARINA CUNHA SILVA PAZOLINI

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LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina

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  • article 18 Citação(ões) na Scopus
    Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in theMKRN3Gene after Treatment with Gonadotropin-Releasing Hormone Analog
    (2020) RAMOS, Carolina de Oliveira; MACEDO, Delanie B.; CANTON, Ana Pinheiro M.; CUNHA-SILVA, Marina; ANTONINI, Sonir R. R.; STECCHINI, Monica Freire; SERAPHIM, Carlos Eduardo; RODRIGUES, Tania; MENDONCA, Berenice Bilharinho; LATRONICO, Ana Claudia; BRITO, Vinicius Nahime
    Introduction:Loss-of-function mutation ofMKRN3represents the most frequent genetic cause of familial central precocious puberty (CPP). The outcomes of gonadotropin-releasing hormone analog (GnRHa) treatment in CPP patients withMKRN3defects are unknown.Objective:To describe the clinical and hormonal features of patients with CPP with or withoutMKRN3mutations after GnRHa treatment. Anthropometric, metabolic and reproductive parameters were evaluated.Patients and Methods:Twenty-nine female patients with CPP due to loss-of-function mutations in theMKRN3and 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 toMKRN3defects reached final height (FH).Results:At the diagnosis, there were no significant differences between clinical and laboratory features of patients with CPP with or withoutMKRN3mutations. A high prevalence of overweight and obesity was observed in patients with CPP with or withoutMKRN3mutations (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 toMKRN3mutations (11.5 +/- 1.3 and 12 +/- 0.6 years, respectively). The prevalence of polycystic ovarian syndrome was 9.1% in patients with CPP due toMKRN3mutations and 5.9% in those with idiopathic CPP.Conclusion:Anthropometric, metabolic, and reproductive outcomes after GnRHa treatment were comparable in CPP patients, with or withoutMKRN3mutations, suggesting the absence of deleterious effects ofMKRN3defects in young female adults' life.