Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence.
Rebecca Deans, Sarah M Creighton, Lih-Mei Liao...
https://pubmed.ncbi.nlm.nih.gov/22211628Actively Recruiting
Age: 1Year - 99Years
All Genders
Healthy Volunteers
ID04708431
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ยท Updated on 2026-05-19
650
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a natural history study to better understand the health and wellbeing of 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. The study aims to describe a detailed health profile of people with AIS by examining hormonal, metabolic, cardiovascular, bone, immune, and quality of life aspects as well as tumor risks. It will also include adult relatives to provide comparison data and help clarify the role of the androgen receptor in human health. Participants will undergo various assessments including physical exams, medical history reviews, blood and urine tests, heart monitoring through electrocardiograms, and imaging tests such as X-rays, MRI, and sonograms. Adults may have additional scans like MR elastography, MR spectroscopy, and cardiac CT scans. The study is observational with no treatment interventions; participants will have visits every 1 to 2 years and may continue participation indefinitely. Adult relatives are invited for a single visit with some of the same assessments. During the study, researchers will collect data on bone density, metabolic and immune markers, tumor monitoring, sexual function, and overall quality of life. Tests will include questionnaires, glucose tolerance tests, and imaging to evaluate bone and tissue health. The study will monitor participants over time to gather comprehensive information on AIS and its effects. Safety and clinical care will be provided alongside data collection throughout the study period, which may last for many years.
CONDITIONS
Brief Title
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Who Can Participate
Age: 1Year - 99Years
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Individuals aged 0 to 99 years with confirmed androgen receptor gene mutation or clinical diagnosis of complete androgen insensitivity syndrome (CAIS) based on specific clinical criteria
- Identify as male or female
- Patients with complete, partial, or mild androgen insensitivity
- Willingness to comply with all study procedures and availability for the study duration
- Ability of the subject or guardian to understand and sign informed consent
- Adult relatives of patients with AIS are eligible for a single visit
You will not qualify if you...
- Diagnosis of other conditions such as partial or complete gonadal dysgenesis, 5-alpha reductase deficiency, or other causes for 46 XY disorders of sex development aside from androgen insensitivity
- Significant non-endocrine medical conditions
- Relatives with significant non-endocrine medical conditions
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Ongoing throughout study duration
Participants undergo assessments including hormonal, metabolic, immunologic, cardiovascular, bone density scans, imaging, and quality of life evaluations to define a comprehensive phenotype related to androgen insensitivity.
Initial baseline visit and periodic follow-up visits
Long-term Monitoring
Duration - Up to 20 years
Participants are followed over time for longitudinal evaluation of bone health, metabolic status, tumor risk, hormone therapy effects, and quality of life measures.
Periodic visits depending on individual assessments and cohort assignment
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
V
Veronica Gomez-Lobo, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
Frequently Asked Questions
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Published Research Related To This Trial
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
S F Ahmed, A Cheng, L Dovey...
https://pubmed.ncbi.nlm.nih.gov/10690872Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads.
Silvano Bertelloni, Maria C Meriggiola, Elenora Dati...
https://pubmed.ncbi.nlm.nih.gov/28715798