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Polycystic ovary syndrome and idiopathic central precocious puberty: two sides of the same coin?

Esmeralda Cela·Chiara Tarantino·Ludovica Vincenzi·Marta Tenuta·Carlotta Pozza·Marianna Minnetti·Emilia Sbardella
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Abstract

PURPOSE: Several studies have reported an association between central precocious puberty (CPP) and a higher prevalence of polycystic ovary syndrome (PCOS), raising the hypothesis that CPP may act as an early-life indicator of increased PCOS risk. This review investigates the shared genetic, epigenetic, and environmental factors potentially underlying CPP and PCOS, with the aim of clarifying their connection and supporting advances in early detection and management. METHODS: A comprehensive literature review was conducted using the PubMed/MEDLINE database, prioritizing research from the past two decades, supplemented by key studies from earlier years. This research included studies on genetic and epigenetic factors, endocrine-disrupting chemicals (EDCs), and metabolic influences related to CPP and PCOS. Both original research and review articles were selected, focusing on the identification of pathophysiological mechanisms and risk factors linking these disorders. RESULTS: Genome-wide association studies (GWAS) have linked genetic variants in the kisspeptin and neurokinin B signaling pathways to increased gonadotropin-releasing hormone (GnRH) secretion, triggering early puberty. Moreover, increased GnRH pulsatility contributes to elevated luteinizing hormone (LH) levels, altered LH/follicle-stimulating hormone (FSH) ratios, and ovarian hyperandrogenism—key pathophysiological features of PCOS. Additionally, epigenetic modifications, particularly changes in DNA methylation at CpG sites, have been observed in both CPP and PCOS. A hyperandrogenic intrauterine environment and inadequate fetal growth contribute to prenatal epigenetic alterations, while postnatal factors such as obesity, insulin resistance, and exposure to EDCs further influence epigenetic modifications. Although insulin resistance and hyperandrogenism are central features linking CPP to PCOS, the precise mechanisms underlying these associations remain complex and not yet fully elucidated. CONCLUSIONS: Identifying shared genetic and environmental factors influencing early puberty onset and PCOS highlights the importance of close clinical monitoring in early life, though preventive interventions remain unproven. Further research is needed to clarify these mechanisms, which will support the development of more precise prevention and treatment strategies in clinical practice.

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HumansPolycystic Ovary SyndromePuberty, PrecociousFemaleEpigenesis, GeneticCentral precocious pubertyEndocrine-disrupting chemicalsEpigenetic reprogrammingGeneticsInsulin resistancePolycystic ovary syndromeJournal ArticleReview

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Esmeralda Cela, Chiara Tarantino, Ludovica Vincenzi, Marta Tenuta, Carlotta Pozza, Marianna Minnetti, Emilia Sbardella. 2025-10-15. Polycystic ovary syndrome and idiopathic central precocious puberty: two sides of the same coin?. https://doi.org/10.1007/s12020-025-04461-y

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