This chapter provides a comprehensive analysis of the genetic factors and environmental influences contributing to endometriosis, highlighting recent advances in genomic research and their implications for personalized medicine approaches. It delves into the genetic underpinnings of endometriosis, exploring the latest research findings on genetic factors that contribute to susceptibility, disease progression, and potential therapeutic targets. The chapter provides insight through a review of Genome-Wide Association Studies (GWAS) and candidate gene studies, highlighting the key genetic variants associated with endometriosis. Additionally, it discusses the complex interplay between genetic predisposition and environmental factors in the development of endometriosis. Furthermore, it explores emerging technologies and methodologies, such as next-generation sequencing (NGS) and functional genomics, for unraveling the genetic complexity of endometriosis. Finally, the chapter discusses the implications of genetic research for personalized diagnosis, treatment, and prevention strategies in endometriosis management. These findings have the potential to significantly impact clinical practice and patient outcomes, paving the way for earlier diagnosis, targeted therapies, and improved quality of life for individuals affected by endometriosis.

Introduction and aim. This study presents a case of opsismodysplasia in a family, characterized by skeletal dysplasia and neu rological complications in two consecutive neonates. Description of the case. Genetic analysis revealed that the father carries a likely benign/variant of uncertain significance (VUS) in exon 14 of the INPPL1 gene (c.1706C>T, p.Thr569Met), while the mother carries a pathogenic variant in exon 15 (c.1809del, p.Trp604GlyfsTer17). These variants follow an autosomal recessive inheritance, confirming carrier status. Additionally, the fa ther is a carrier of a likely pathogenic variant in the CYP17A1 gene (OMIM*609300), specifically in exon 6 (c.1040G>A, p.Ar g347His, heterozygous), affecting 17,20-lyase activity and associated with isolated 17,20-lyase deficiency. Targeted sequencing and Sanger validation elucidated the genetic basis of the condition, emphasizing the importance of genetic testing and coun selling in families with a history of genetic disorders. The detected variants in the INPPL1 gene disrupt SHIP2 protein function, contributing to the observed abnormalities. Conclusion. This study underscores the significance of early genetic diagnosis for reproductive counselling and timely inter vention. Further research into opsismodysplasia’s genetic mechanisms may lead to improved management and therapies for affected individuals. Overall, this case highlights the critical role of genetic analysis in diagnosing and managing rare genetic disorders, offering insights into personalized care and family planning.

Endometriosis is a chronic, estrogen-dependent inflammatory disorder characterized by ectopic endometrial-like tissue. We investigated gene expression changes in ectopic endometrium from 221 women with histologically confirmed endometriosis and compared them with eutopic endometrium from 27 fertile controls. Using quantitative real-time PCR, we analysed 35 candidate genes involved in epigenetic regulation, development (HOX genes), inflammation, angiogenesis and hormonal signalling. A total of 18 genes were upregulated and 17 downregulated in ectopic tissue (adjusted p < 0.05, Benjamini–Hochberg FDR). Upregulated genes included DNMT1, DNMT3A, VEGFA, TNF-α and MMP2, whereas HOXA10, PGR and ESR1 were among the downregulated genes. Gene ontology (GO) and protein–protein interaction (PPI) analyses (STRING, ShinyGO) revealed enrichment in DNA-methylation and inflammatory pathways. Clinical and biochemical measures (CA-125, CRP, pelvic pain) increased with rASRM stage. These results identify coordinated epigenetic and inflammatory alterations in ectopic endometrium, suggesting potential molecular targets for diagnosis and therapy.