Hormonal and Genetic Influences on Benign Reproductive Tumours in Young Women: A Narrative Review

Abstract

Background: Benign reproductive tumours, such as uterine fibroids, ovarian cysts and endometrial polyps, are extremely common in women of childbearing age and contribute to gynaecological morbidity to a significant degree. Among these, uterine fibroids demonstrate a cumulative lifetime prevalence approaching 70% by late reproductive age. Ovarian cysts are detected in approximately 20-30% of menstruating adolescents and young adults at any given time, while endometrial polyps occur in an estimated 10–24% of reproductive-aged women. These conditions are non-malignant; however, they are linked with menstrual irregularities, infertility, and the decrease in the quality of life. There is growing evidence to the effect that their development is instigated by complex interactions between hormonal dysregulation and genetic susceptibility. Aim: The aim of this paper is to synthesise the existing evidence on hormonal and genetic pathways involved in the development and progression of benign reproductive tumours in young women and, particularly, the modifiable risk factors. Method: A structured literature search was conducted using electronic databases such as PubMed, Scopus, and Google Scholar for articles published between 2019 and 2026. Result: Available evidence indicates hormonal dysregulation, which manifests itself in estrogen dominance, progesterone imbalance, and altered gonadotropin signalling, is at the centre of tumour development due to its promotion of cellular proliferation and inhibition of apoptosis. Genetic changes, especially somatic mutations in the MED12 gene, have a role in tumourigenesis by disrupting transcriptional regulation and making cells more susceptible to hormonal stimuli. However, hormonal contraceptives exhibit a protective effect on some endometrial pathologies, but their effects vary based on formulation and duration of use. Conclusion: Benign reproductive tumours occur because of multifactorial interaction between endocrine, genetic and metabolic factors. A better comprehension of these pathways is necessary to help in the early detection of risks and to develop specific prevention strategies.