Androgen insensitivity syndrome and climate change: Exploring environmental interactions in disorders of sex development

Androgen Insensitivity Syndrome (AIS) is a rare X-linked disorder of sex development caused by variants in the androgen receptor (AR) gene, resulting in partial or complete resistance to androgens in individuals with a 46, XY karyotype. Clinically, AIS presents along a spectrum ranging from complete feminization (Complete AIS) to varying degrees of undervirilization (Partial AIS and Mild AIS), with diagnosis typically based on phenotypic presentation, hormonal profi ling, and molecular genetic testing. While AIS is fundamentally a genetic condition, growing evidence suggests that environmental factors—including endocrine-disrupting chemicals (EDCs)—may influence androgen signalling pathways.

Climate change is altering global environmental dynamics, including temperature patterns, pollutant distribution, and the environmental persistence of EDCs such as phthalates, bisphenols, and persistent organic pollutants. Rising temperatures and extreme weather events may increase human exposure to these compounds through air, water, and food systems. Experimental and epidemiological studies indicate that certain EDCs can interfere with androgen receptor signaling, potentially exacerbating phenotypic variability in individuals with partial androgen insensitivity or aff ecting broader patterns of male reproductive development.

This abstract explores the intersection between AIS and climate-related environmental change, emphasizing the need to consider how shifting ecological conditions may modulate endocrine health. Although climate change does not cause AIS, it may infl uence androgen signalling environments and reproductive health outcomes more broadly. Future interdisciplinary research integrating genetics, endocrinology, environmental science, and climate modeling is essential to understand the potential modifying eff ects of environmental stressors on androgen receptor function and disorders of sex development.

Graduated  with distinction from Azerbaijan State Medical University, Dr. Jafarli has since earned several prestigious qualifications, including membership in the Royal College of Surgeons (MRCS) and fellowships such as Fellow of the European Board of Paediatric Surgeons (FEBPS) and Fellow of the American College of Surgeons (FACS). Currently, she serves on the editorial boards of five medical journals and is actively involved in education in the UK. She is an Education Committee member of the American College of Surgeons. Alongside her academic accomplishments, Dr. Jafarli has played a significant mentorship role in the Cardiff University Women in Surgery Mentorship Program, where she inspired and guided aspiring surgical professionals. She is also engaged in research at the Institute of Molecular Biology and Biotechnology, focusing her PhD on Androgen Insensitivity Syndrome in children, in collaboration with the Azerbaijan National Academy of Sciences, the DSD Committee, and institutions in Germany. Dr. Jafarli brings hands-on experience from institutions like Guy’s and St Thomas’ Hospital and Chelsea and Westminster Hospital in London, in the fields of general paediatric surgery, paediatric urology, paediatric plastic surgery and general surgery. As a committed leader, she established the Association of Azerbaijani British Professionals and is an active member of various surgical and medical organizations. Additionally, she holds a degree in Leadership and Management. Dr. Jafarli has written over 25 articles in peer-reviewed journals and authored six books.