Natural History Study to Understand Health and Wellbeing in Individuals with Androgen Insensitivity Syndrome and Effects of Androgen Receptor Gene Differences

What this Trial Is About

Researchers are studying individuals with Androgen Insensitivity Syndrome AIS, a rare condition where the body cannot respond to male hormones due to differences in the androgen receptor gene. This natural history study aims to describe the overall health and characteristics of people with AIS, including hormone levels, bone strength, metabolic and cardiovascular health, quality of life, and tumor risk. The study also includes adult relatives without AIS to better understand genetic effects. Participants will undergo various tests and assessments, including medical history, physical exams, blood and urine tests, heart electrocardiograms, bone density scans, and imaging such as MRI or sonograms of the pelvis. Adults may receive additional scans like MR elastography, MR spectroscopy, and cardiac CT scans. Optional exams include genital exams and vaginal swabs. Participants have visits every 1 to 2 years, and adult relatives participate in one visit with selected tests. During the study, participants will provide samples and undergo physical measurements and questionnaires to track health changes over time. Researchers will monitor bone health, metabolic markers, tumor risks, and quality of life through repeated assessments. The study will continue indefinitely, allowing long-term observation, and aims to enroll about 500 individuals with AIS and their relatives for comprehensive data collection and future treatment research.

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity