Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen insensitivity syndrome (AIS) is a condition in which the body cannot sense the male hormones in the blood or tissue. Both men and women have male hormones, and the hormones have effects in all parts of the body. The aim of this natural history study is to define and describe a comprehensive phenotype of patients with androgen insensitivity (based on confirmed androgen receptor (AR) gene difference), including hormonal, metabolic, immunologic, and cardiovascular aspects of this condition, as well as effects on quality of life and tumor formation risk and evaluation. The purpose is to obtain a better understanding of the overall health issues that people with AIS may have. With a natural history study in individuals with AIS, data and tests may provide information regarding health risks and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health.

For more details about this study, please email us at nichd-aisprotocol@nih.gov or visit the Clinical Trials website and https://clinicaltrials.gov/ct2/show/NCT04708431.