Abstract Background Disorders of Sex Development (DSD) refer to a group of congenital conditions where chromosomal, gonadal, or anatomical sex development is atypical. Cardiovascular diseases (CVD) are a leading cause of illness and death worldwide, often resulting in serious conditions like heart attacks, strokes, and heart failure. Recent research suggests that shared mechanisms may link DSD and CVD. This study aims to investigate the shared genetic mechanisms between DSD and CVD, which could uncover common biological pathways involved in their development. Methods We performed a comprehensive analysis using a dataset of 169 genes associated with 46XY DSD and corresponding genes linked to CVD, gathered from published research. The overlapping genes between them were identified and grouped into four biological processes: transcription factors, signaling pathways, hormonal regulation, and developmental regulation. Results In this review, we explored the potential link between recognized 46XY DSD genes and CVD. We found 25 genes that are shared between the 46 XY DSD and CVD, suggesting a genetic connection between the two conditions. These shared genes fall into categories such as transcription factors, signaling pathways, hormonal regulation, and developmental regulation. This gives us valuable insights into how these genetic factors might affect cardiovascular health in people with DSD. Each gene and its role in 46XY DSD and CVD will be discussed separately. We will also address challenges and provide suggestions for a better understanding of the genetics involved. Additionally, the review will outline future research directions crucial for advancing our understanding of the connection between 46XY DSD and CVD, with the goal of improving health outcomes for affected individuals. Conclusions Our findings suggest a genetic link between 46 XY DSD and CVD, indicating that shared molecular mechanisms may play a role in the development of both conditions. These insights into the connections could have important implications for personalized medicine, potentially allowing for treatments that target both 46 XY DSD and CVD.
Hashmi et al. (Thu,) studied this question.