Association between Polycystic Ovary Syndrome and Central Precocious Puberty and its impact on reproductive and metabolic outcomes: a clinical and genetic study of the largest Brazilian multicenter cohort (ELSA Brasil)

• Grant number: 23/16890-7
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• Start date: August 01, 2024
• End date: July 31, 2026
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Larissa Garcia Gomes
• Grantee: Flávia Rezende Tinano
• Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
• Associated research grant: 19/27631-7 - Genetic and epigenetic studies of endocrine disorders related with reproductive axis, AP.TEM

Abstract

The association between central precocious puberty (CPP) and polycystic ovary syndrome (PCOS) is suggested by epidemiological, pathophysiological, and genetic data; but there is still a lack of studies that robustly corroborate this association. Both disorders are linked to unfavorable metabolic and reproductive outcomes in adulthood, but it is not known whether the association of the two conditions has an impact on these outcomes. The identification of inactivating mutations in the DLK1 gene in two sisters affected by PCOS, early type 2 diabetes and history of CPP in a study conducted by our group raised the hypothesis that patients with both conditions simultaneously may have particular clinical and genetic characteristics.The aims of this study are to estimate the prevalence of the association of PCOS and CPP in a large Brazilian cohort, evaluate the prevalence of metabolic and reproductive outcomes in these women and investigate the genetic basis of this association. The patients included will come from the Longitudinal Study of Adult Health (ELSA Brasil), which involved 8,218 women, 965 with a reported diagnosis of PCOS, 254 with precocious menarche and 35 with both conditions simultaneously. The prevalence of obesity, glucose intolerance, type 2 diabetes, dyslipidemia, systemic arterial hypertension, cerebrovascular and coronary diseases, endometrial cancer, infertility, spontaneous abortion, gestational diabetes, and pre-eclampsia will be assessed. Patients with both PCOS and precocious menarche will undergo genetic studies.