Descriptive overview of gene variants potentially affecting female infertility treatments: A systematic review

Pharmacogenetics is an emerging discipline that explores how genetic variants affect drug response, potentially leading to side effects or treatment failure. Although widely applied in other medical specialties, its use in female reproductive medicine remains limited. The objective of this systematic review is to investigate and summarize the current state of knowledge in pharmacogenetics as it applies to female reproductive diseases or conditions, aiming to support clinical application. A comprehensive systematic search was conducted using PubMed up to September 2025, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Keywords related to female infertility and pharmacogenetics/pharmacogenomics were used. The search yielded 603 articles, of which 75 were ultimately included. Evaluation of the studies identified 46 genetic variants affecting drug response in the field of female infertility. Pharmacogenetic research in this field remains limited, with notable gaps for conditions such as endometriosis and uterine fibroids that influence reproductive outcomes. The variants associated with responses during infertility therapies could contribute to preventive medicine aimed at avoiding reduced drug efficacy, excessive responses, or the development of adverse effects. Additionally, greater dissemination of these findings within clinical settings is essential to improve awareness and understanding in this field and to facilitate the study of these variants and their potential translation into clinical practice. This review summarizes the current state of pharmacogenetics in the context of female infertility and aims to serve as a reference and to encourage further research in this area. • Genetic variants influence drug response in female infertility treatments. • FSHR is the most studied gene affecting ovarian stimulation outcomes. • Pharmacogenetics will improve drug efficacy and reduce adverse effects in ART. • There is a lack of studies addressing ADME-related genes in infertility treatments. • Evidence gaps remain for endometriosis and uterine fibroids studies.