Genetic and Epigenetic Components in the Pathogenesis of Adenomyosis and Endometriosis in Adolescents

Mario Palumbo, Luigi Della Corte, Mario Ascione, Giuseppe D’Angelo, Dario Colacurci, Giorgio Maria Baldini, Massimiliano Pellicano, Pierluigi Giampaolino, Giuseppe Bifulco
Biomedicines · 2025 · vol. 13(12) , pp. 2988 · doi:10.3390/biomedicines13122988 · PMID:41462999 · W4417037404
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⚙ AI-generated summary by claude@2026-06, 2026-06-09 ⓘ

This review identifies a significant heritable component in adolescent adenomyosis and endometriosis, with evidence suggesting involvement of WNT4, VEZT, ESR1, and epigenetic alterations.

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Abstract

Background: Adenomyosis and endometriosis are complex, estrogen-dependent gynecological conditions increasingly diagnosed in adolescents. While traditionally considered diseases of reproductive-age women, emerging evidence suggests a possible developmental origin in some cases, with genetic and epigenetic susceptibility playing a central role. Understanding the contribution of hereditary and molecular factors in adolescent-onset forms may offer insights into early pathogenesis, personalized risk stratification and tailored prevention strategies. Objectives: The objectives of this study were to explore the current evidence supporting a genetic contribution to the development of adenomyosis and endometriosis in adolescents and to identify specific genetic variants, molecular pathways and epigenetic mechanisms potentially involved in early-onset disease. Methods: A narrative literature review was conducted using PubMed and Scopus databases up to September 2025. Studies investigating the genetic basis of adenomyosis and endometriosis in adolescents, including familial aggregation, twin studies, GWAS and candidate gene analyses, were included. Results: Evidence from familial clustering and twin studies suggests a significant heritable component in both conditions. Genome-wide association studies have identified susceptibility loci, particularly involving WNT4, VEZT and ESR1, that may be relevant to adolescent-onset disease. Candidate gene studies further highlight the roles of estrogen signalling, inflammatory pathways, extracellular matrix remodelling and emerging epigenetic alterations, including aberrant DNA methylation and chromatin remodelling, which may influence early lesion development. However, most data are derived from adult cohorts, with limited adolescent-specific analyses. Conclusions: Genetic and epigenetic predispositions appear to contribute significantly to the pathogenesis of endometriosis and possibly adenomyosis in adolescents. Further studies targeting early-onset disease are needed to unravel developmental mechanisms and gene–environment interactions unique to this population.

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Condition tags

endometriosisadenomyosis

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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