Androgen Insensitivity Syndrome and Climate Change: Exploring Environmental Interactions in Disorders of Sex Development

Background: 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 profiling, and molecular genetic testing. While AIS is fundamentally a genetic condition, growing evidence suggests that environmental factors—including endocrinedisrupting chemicals (EDCs)—may influence androgen signaling 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.

Methods: 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 affecting broader patterns of male reproductive development.

Results: 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 influence androgen signaling environments and reproductive health outcomes more broadly.

Conclusion: Future interdisciplinary research integrating genetics, endocrinology, environmental science, and climate modeling is essential to understand the potential modifying effects of environmental stressors on androgen receptor function and disorders of sex development.

To be updated shortly..