Understanding health in individuals with androgen insensitivity syndrome
Official title: Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Run by National Institutes of Health Clinical Center (CC) · NCT04708431 · Data updated 2026-11-12
This study is trying to learn more about the health of people with androgen insensitivity syndrome by looking at different health factors over time without giving any treatments.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 8 Years to 99 Years |
| Sex | All |
| Enrollment | 650 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | April 29, 2021 |
| Main results expected | February 1, 2040 |
| Study ends | February 1, 2040 |
| Registry record updated | October 20, 2026 |
| Trial ID | NCT04708431 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals aged 0-99 years with confirmed androgen insensitivity based on genetic mutations or clinical diagnosis.
✕Probably not a fit
Patients without androgen insensitivity syndrome or those who do not meet the inclusion criteria may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to gather data on individuals with androgen insensitivity syndrome (AIS) to better understand their health over time. Researchers will assess various aspects including hormonal, metabolic, immunologic, and cardiovascular factors, as well as quality of life and tumor formation risks. The study will involve longitudinal assessments and will not include any interventions, allowing for clinical care while data is collected. The goal is to define a comprehensive phenotype of patients with AIS based on confirmed androgen receptor gene differences.
Why it matters
Potential benefit: If successful, this study could lead to improved management and monitoring strategies for individuals with androgen insensitivity syndrome.
How similar studies have gone: While this study focuses on a specific population, similar observational studies have provided valuable insights into rare conditions, suggesting potential for meaningful findings.
Who can join: the full rules
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Inclusion Criteria for AIS Subjects In order to be eligible to participate in this study, an individual must meet all the following criteria: 1. Individuals ages 8-99 years old with known androgen insensitivity based on pathologic androgen receptor gene mutation or based on clinical diagnosis of complete androgen insensitivity (CAIS) based on 46 XY karyotype, presence of testis, absence of uterus, high testosterone without signs of virilization at birth or during puberty and/or multiple members in the family also presenting with clinical CAIS. 2. Identify as male or female 3. Patients with both complete, partial, and mild androgen insensitivity are eligible 4. Stated willingness to comply with all study procedures and availability for the duration of the study 5. Ability of subject or guardian to understand and the willingness to sign and date a written informed consent document. Inclusion Criteria for Relative of AIS Subjects 1\) Adult Relatives of patients with AIS EXCLUSION CRITERIA: Exclusion Criteria for AIS Subjects 1. An individual who meets any of the following criteria will be excluded from participation in this study: Patients with other diagnoses such as partial or complete gonadal dysgenesis, 5-alpha reductase deficiency, and 46 XY. If, following a diagnostic work-up, a patient is determined to have causes for 46 XY DSD other than androgen insensitivity; they will no longer be followed on this protocol. They will have the opportunity to continue care with the team under the Data Collection Protocol or may be referred to an expert or multidisciplinary DSD team in the community. 2. Patients with significant non-endocrine medical conditions. Exclusion Criteria for Relative of AIS Subjects 1\) Patients with significant non-endocrine medical conditions.
Where it's running
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Veronica Gomez-Lobo, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Veronica Gomez-Lobo, M.D.
- Email: veronica.gomez-lobo@nih.gov
- Phone: (301) 435-7567
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.