Androgen Insensitivity SyndromeNCT04708431
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
An observational study of Androgen Insensitivity Syndrome and Metabolic Parameters in AIS, CAIS, PAIS and MAIS, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
Background: 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 rare condition in which the body cannot sense the male hormones in the blood or tissue. Read more about this study
- Who is it for?
- Ages 8 to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS
- How many people
- 650 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Apr 2021to 1 Feb 2040
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: We will enroll and evaluate 500 patients with confirmed androgen receptor mutations. We will enroll 50 female relatives who are carriers of the AR gene difference and 50 female relatives who are not carriers of the AR gene and 50 healthy male relatives.
Who may be able to join
- In order to be eligible to participate in this study, an individual must meet all the following criteria:
- 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.
- Identify as male or female
- Patients with both complete, partial, and mild androgen insensitivity are eligible
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Ability of subject or guardian to understand and the willingness to sign and date a written informed consent document.
- 1) Adult Relatives of patients with AIS
Who cannot join
- 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.
- Patients with significant non-endocrine medical conditions.
- 1) Patients with significant non-endocrine medical conditions.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
Background:
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 rare condition in which the body cannot sense the male hormones in the blood or tissue. Both women and men can be affected by AIS. Researchers want to learn more about the health of people with AIS over time.
Read more
With a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. This study does not involve any interventions and we can provide clinical care while collecting data.
Objective:
The objective of this natural history study is to describe and define a comprehensive phenotype (characteristic) of patients with AIS based on confirmed androgen receptor (AR) gene difference. We will evaluate hormones, bone density and markers, cardiovascular and metabolic parameters, as well as 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 through the study procedures listed.
Eligibility:
People ages 8-99 with AIS and their adult relatives
Design:
Participants will go through a series of study procedures for data and specimen collection. This will be done to understand how AIS affects individuals since the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. All tests will be performed by skilled and trained study professionals.
Participants will be screened with:
Medical history
Physical exam
Medical record review
Lab tests.
Participants will have physical exams. Their body measurements will be taken. They will have blood and urine tests. They will have electrocardiograms to check heart health. They may complete questionnaires. They may have an Oral Glucose Tolerance Test.
Participants may have x-rays and HRpQCT scans taken of the hand, wrist, and other bones.
Participants will have body scans to measure bone thickness.
Participants will have magnetic resonance imaging (MRI) or sonogram of the pelvis. For MRI, they may get a contrast agent via intravenous (IV) catheter.
Adult participants may have the following:
MR elastography. It uses MRI and low-frequency vibrations to map stiffness of body tissues.
MR spectroscopy. It uses MRI to take pictures of chemicals in the liver and body fat.
Cardiac computed tomography scan. It uses x-rays to make pictures of the heart. Participants may get a contrast agent via IV.
Optional genital exam.
Optional one-time vaginal swab.
Participants will have visits every 1-2 years. Participation lasts indefinitely.
Adult relatives will also be invited to participate but will have only 1 visit. It will include some of the above tests.
Read the detailed description
Study Description: This is a natural history study of individuals with androgen receptor gene abnormalities.
Objectives:
Primary Objectives:
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 AIS, as well as quality life and tumor formation risk and evaluation.
Secondary Objectives:
- Bone Health:
- Follow a large population of patients with androgen receptor abnormalities for:
- Longitudinal assessment of bone mineral density (BMD) before and after gonadectomy
- Development of normative values for dual-energy X-ray absorptiometry (DEXA) and high-resolution peripheral quantitative computed tomography (HRpQCT) scans in individual with complete androgen insensitivity syndrome (CAIS) and family members.
- Studies to determine bone geometry, strength and shape,
- Studies to determine muscle-skeletal unit inferences
- Studies to evaluate skin tone
- Evaluation of bone accrual from childhood to adolescence
- Metabolic and Immune Abnormalities:
- Follow a large population of patients with androgen receptor abnormalities for studies of metabolic abnormalities and auto-immune disease screening
- Metabolic syndrome,
- Insulin resistance
- Cardiovascular markers
- Endometabolic imaging
- Autoimmune screening tests
- Testicular Tumor Risk and Monitoring:
- Follow a large population of patients with androgen receptor abnormalities in order to: -- Describe the typical and atypical appearance of testes on ultrasound and magnetic resonance imaging (MRI) in young individual with CAIS.
- Evaluate gonadal tumor markers as a tool to assess for gonadal tumor.
- When individuals with androgen receptor abnormalities decide to undergo gonadectomy, perform tissue evaluation in order to:
- Investigate the pathophysiology of gonadal tumor formation
- Assess fertility potential in testis of individual with androgen receptor abnormalities
- Quality of Life:
- Follow a large population of patients with androgen receptor abnormalities to characterize quality of life measures throughout the lifespan
- Evaluate the effects of androgen receptor abnormalities on individual s sexual function. Compare sexual function in adult individuals with androgen receptor abnormalities to individual with classic congenital adrenal hyperplasia (CAH) and unaffected individual of similar ages.
- Hormone Replacement:
- Evaluate different types and delivery of hormone replacement therapy on quality of life, sexual function, bone health and metabolic parameters in individual who have undergone gonadectomy
- Follow a sample population of relatives of individuals with androgen insensitivity syndrome (AIS) in order to assess the effects of AR gene difference carrier status phenotype including hormonal, metabolic, immunologic, quality of life, and tumor formation. Family members without AR gene abnormalities will serve as controls.
Follow a large population of patients with AIS for referral to future treatment studies.
Endpoints:
Primary Endpoint: Longitudinal evaluation of 500 individuals with AIS.
Secondary:
- DEXA and HRpQCT scans and bone metabolism markers will be evaluated longitudinally in all individuals with AIS. Additionally, these will be correlated with muscle grip and skin tone studies.
- Compare metabolic parameters in all individuals with AIS.
- Compare gonadal tissue with MRI or ultrasound in all individuals with AIS.
- Evaluate Quality of life with Quality of Life (QoL) questionnaire.
- Conditions
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
- Keywords
- Androgen insensitivity syndrome (AIS), Complete androgen insensitivity (CAIS), Partial androgen insensitivity (PAIS), Mild androgen insensitivity syndrome (MAIS), Natural History
- Medical subject headings
- Androgen-Insensitivity Syndrome, Bulbo-Spinal Atrophy, X-Linked
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Female subjects relatives who are carriers of the AR gene difference | We will enroll 50 female subjects relatives AIS subjects who are carriers of the AR gene difference | |
| Female subjects relatives who are not carriers of the AR gene | We will enroll 50 female subjects relatives of AIS subjects who are not carriers of the AR gene. | |
| Healthy male subjects relatives | We will enroll 50 healthy male subjects of AIS relative subjects | |
| Subjects with androgen receptor mutations | 500 Subjects with confirmed androgen receptor mutations |
What is being measured
The primary outcome is the main question the study is designed to answer.
To define and describe a comprehensive phenotype in 500 patients with androgen insensitivity
Primary Objectives: 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 the disease, as well as quality life and tumor formation risk and evaluation
Measured: End of study
Secondary outcomes (5)
Effects of hormone therapy in individuals with Androgen Insensitivity
Evaluate different types and delivery of hormone replacement therapy on quality of life, sexual function, bone health and metabolic parameters in individuals who have undergone gonadectomy
Measured: End of study
Quality of life measures (QoL) in individuals with Androgen Insensitivity
Quality of life questionnaires will be administered during each patient visit
Measured: End of study
Gonadal Tumor evaluation in individuals with Androgen Insensitivity
- MRI and Ultrasound imaging will be performed to describe the typical appearance of testes on ultrasound and magnetic resonance imaging (MRI) in young individuals with CAIS. B) Evaluate gonadal tumor markers as a tool to assess for gonadal tumor C) Gonadectomy tissue evaluation in order to: Investigate the histology and pathophysiology of gonadal tumor formation and assess the state of spermatogenesis in testis of individuals with androgen receptor abnormalities
Measured: End of study
Metabolic assessment in individuals with Androgen Insensitivity
Metabolic parameters including laboratory evaluation as well as novel endometabolic imaging will be performed. Imaging will include MR spectography of liver fat and body composition, MR elastography for fibrosis assessment, and coronary wall imaging using CT angiography, and MRI evaluation of endothelial function to evaluate for artherosclerosis
Measured: End of study
Evaluate Bone Health in individuals with Androgen Insensitivity
DEXA and HRpQCT scans and bone metabolism markers will be evaluated longitudinally in all individuals with AIS and family members. Comparison between family members who are carriers and non-carriers of the AR gene difference, those with mild, partial and complete androgen insensitivity will allow for evaluation of the effect of androgen receptor abnormalities on bone mineral density and growth as well as develop normative data for DEXA and HRpQCT scan interpretation in this population. Physiatry measurements will allow evaluation of muscle skeletal unit inferences.
Measured: End of study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2021
- Study start29 Apr 2021
- Primary completion1 Feb 2040 (estimated)
- Study completion1 Feb 2040 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Androgen Insensitivity SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 650 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Veronica Gomez-Lobo, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04708431
- Sponsor's protocol ID
- 200165
- Other IDs
- 20-CH-0165
- Status last verified
- 16 Oct 2026
- First submitted
- 13 Jan 2021
- Last updated
- 20 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Deans R, Creighton SM, Liao LM, Conway GS. Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. Clin Endocrinol (Oxf). 2012 Jun;76(6):894-8. doi: 10.1111/j.1365-2265.2012.04330.x.
PubMed 22211628Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000 Feb;85(2):658-65. doi: 10.1210/jcem.85.2.6337.
PubMed 10690872Bertelloni S, Meriggiola MC, Dati E, Balsamo A, Baroncelli GI. Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. Sex Dev. 2017;11(4):182-189. doi: 10.1159/000477599. Epub 2017 Jul 18.
PubMed 28715798Jumani S, Lehembre-Shiah E, Kaur H, Brookhart CD, Das K, Gordon CM, Maher JCY, Jovanovic M, Adams M, Gomez-Lobo V. Hormonal and Metabolic Features of Complete Androgen Insensitivity Syndrome with and without Gonadectomy. J Pediatr Adolesc Gynecol. 2026 Oct 12:S1083-3188(26)00510-3. doi: 10.1016/j.jpag.2026.10.002. Online ahead of print.
PubMed 42863747
Study at a glance
From the registry record, last updated by the sponsor on 20 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
- ClinicalTrials.gov ID
- NCT04708431
- Acronym / sponsor ID
- 200165
- Conditions
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
- Keywords
- Androgen insensitivity syndrome (AIS), Complete androgen insensitivity (CAIS), Partial androgen insensitivity (PAIS), Mild androgen insensitivity syndrome (MAIS), Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 650 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 29 Apr 2021 (actual)
- Primary completion
- 1 Feb 2040 (estimated)
- Study completion
- 1 Feb 2040 (estimated)
- First posted
- 14 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Background:
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 rare condition in which the body cannot sense the male hormones in the blood or tissue. Both women and men can be affected by AIS. Researchers want to learn more about the health of people with AIS over time.
With a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. This study does not involve any interventions and we can provide clinical care while collecting data.
Objective:
The objective of this natural history study is to describe and define a comprehensive phenotype (characteristic) of patients with AIS based on confirmed androgen receptor (AR) gene difference. We will evaluate hormones, bone density and markers, cardiovascular and metabolic parameters, as well as 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 through the study procedures listed.
Eligibility:
People ages 8-99 with AIS and their adult relatives
Design:
Participants will go through a series of study procedures for data and specimen collection. This will be done to understand how AIS affects individuals since the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. All tests will be performed by skilled and trained study professionals.
Participants will be screened with:
Medical history
Physical exam
Medical record review
Lab tests.
Participants will have physical exams. Their body measurements will be taken. They will have blood and urine tests. They will have electrocardiograms to check heart health. They may complete questionnaires. They may have an Oral Glucose Tolerance Test.
Participants may have x-rays and HRpQCT scans taken of the hand, wrist, and other bones.
Participants will have body scans to measure bone thickness.
Participants will have magnetic resonance imaging (MRI) or sonogram of the pelvis. For MRI, they may get a contrast agent via intravenous (IV) catheter.
Adult participants may have the following:
MR elastography. It uses MRI and low-frequency vibrations to map stiffness of body tissues.
MR spectroscopy. It uses MRI to take pictures of chemicals in the liver and body fat.
Cardiac computed tomography scan. It uses x-rays to make pictures of the heart. Participants may get a contrast agent via IV.
Optional genital exam.
Optional one-time vaginal swab.
Participants will have visits every 1-2 years. Participation lasts indefinitely.
Adult relatives will also be invited to participate but will have only 1 visit. It will include some of the above tests.
Detailed description
Study Description: This is a natural history study of individuals with androgen receptor gene abnormalities.
Objectives:
Primary Objectives:
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 AIS, as well as quality life and tumor formation risk and evaluation.
Secondary Objectives:
- Bone Health:
- Follow a large population of patients with androgen receptor abnormalities for:
- Longitudinal assessment of bone mineral density (BMD) before and after gonadectomy
- Development of normative values for dual-energy X-ray absorptiometry (DEXA) and high-resolution peripheral quantitative computed tomography (HRpQCT) scans in individual with complete androgen insensitivity syndrome (CAIS) and family members.
- Studies to determine bone geometry, strength and shape,
- Studies to determine muscle-skeletal unit inferences
- Studies to evaluate skin tone
- Evaluation of bone accrual from childhood to adolescence
- Metabolic and Immune Abnormalities:
- Follow a large population of patients with androgen receptor abnormalities for studies of metabolic abnormalities and auto-immune disease screening
- Metabolic syndrome,
- Insulin resistance
- Cardiovascular markers
- Endometabolic imaging
- Autoimmune screening tests
- Testicular Tumor Risk and Monitoring:
- Follow a large population of patients with androgen receptor abnormalities in order to: -- Describe the typical and atypical appearance of testes on ultrasound and magnetic resonance imaging (MRI) in young individual with CAIS.
- Evaluate gonadal tumor markers as a tool to assess for gonadal tumor.
- When individuals with androgen receptor abnormalities decide to undergo gonadectomy, perform tissue evaluation in order to:
- Investigate the pathophysiology of gonadal tumor formation
- Assess fertility potential in testis of individual with androgen receptor abnormalities
- Quality of Life:
- Follow a large population of patients with androgen receptor abnormalities to characterize quality of life measures throughout the lifespan
- Evaluate the effects of androgen receptor abnormalities on individual s sexual function. Compare sexual function in adult individuals with androgen receptor abnormalities to individual with classic congenital adrenal hyperplasia (CAH) and unaffected individual of similar ages.
- Hormone Replacement:
- Evaluate different types and delivery of hormone replacement therapy on quality of life, sexual function, bone health and metabolic parameters in individual who have undergone gonadectomy
- Follow a sample population of relatives of individuals with androgen insensitivity syndrome (AIS) in order to assess the effects of AR gene difference carrier status phenotype including hormonal, metabolic, immunologic, quality of life, and tumor formation. Family members without AR gene abnormalities will serve as controls.
Follow a large population of patients with AIS for referral to future treatment studies.
Endpoints:
Primary Endpoint: Longitudinal evaluation of 500 individuals with AIS.
Secondary:
- DEXA and HRpQCT scans and bone metabolism markers will be evaluated longitudinally in all individuals with AIS. Additionally, these will be correlated with muscle grip and skin tone studies.
- Compare metabolic parameters in all individuals with AIS.
- Compare gonadal tissue with MRI or ultrasound in all individuals with AIS.
- Evaluate Quality of life with Quality of Life (QoL) questionnaire.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Female subjects relatives who are carriers of the AR gene difference | – | –We will enroll 50 female subjects relatives AIS subjects who are carriers of the AR gene difference |
| Female subjects relatives who are not carriers of the AR gene | – | –We will enroll 50 female subjects relatives of AIS subjects who are not carriers of the AR gene. |
| Healthy male subjects relatives | – | –We will enroll 50 healthy male subjects of AIS relative subjects |
| Subjects with androgen receptor mutations | – | –500 Subjects with confirmed androgen receptor mutations |
Who may qualify
- Ages
- 8 to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We will enroll and evaluate 500 patients with confirmed androgen receptor mutations. We will enroll 50 female relatives who are carriers of the AR gene difference and 50 female relatives who are not carriers of the AR gene and 50 healthy male relatives.
Key inclusion criteria (7 listed)
- In order to be eligible to participate in this study, an individual must meet all the following criteria:
- 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.
- Identify as male or female
- Patients with both complete, partial, and mild androgen insensitivity are eligible
- Stated willingness to comply with all study procedures and availability for the duration of the study
Key exclusion criteria (3 listed)
- 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.
- Patients with significant non-endocrine medical conditions.
- 1) Patients with significant non-endocrine medical conditions.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To define and describe a comprehensive phenotype in 500 patients with androgen insensitivity
Time frame: End of study
Primary Objectives: 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 the disease, as well as quality life and tumor formation risk and evaluation
5 secondary outcomes
Effects of hormone therapy in individuals with Androgen Insensitivity
Time frame: End of study
Quality of life measures (QoL) in individuals with Androgen Insensitivity
Time frame: End of study
Gonadal Tumor evaluation in individuals with Androgen Insensitivity
Time frame: End of study
Metabolic assessment in individuals with Androgen Insensitivity
Time frame: End of study
Evaluate Bone Health in individuals with Androgen Insensitivity
Time frame: End of study
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Oct 2026.
- Background: PubMed 22211628Deans R, Creighton SM, Liao LM, Conway GS. Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. Clin Endocrinol (Oxf). 2012 Jun;76(6):894-8. doi: 10.1111/j.1365-2265.2012.04330.x.
- Background: PubMed 10690872Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000 Feb;85(2):658-65. doi: 10.1210/jcem.85.2.6337.
- Background: PubMed 28715798Bertelloni S, Meriggiola MC, Dati E, Balsamo A, Baroncelli GI. Bone Mineral Density in Women Living with Complete Androgen Insensitivity Syndrome and Intact Testes or Removed Gonads. Sex Dev. 2017;11(4):182-189. doi: 10.1159/000477599. Epub 2017 Jul 18.
- Derived from this study: PubMed 42863747Jumani S, Lehembre-Shiah E, Kaur H, Brookhart CD, Das K, Gordon CM, Maher JCY, Jovanovic M, Adams M, Gomez-Lobo V. Hormonal and Metabolic Features of Complete Androgen Insensitivity Syndrome with and without Gonadectomy. J Pediatr Adolesc Gynecol. 2026 Oct 12:S1083-3188(26)00510-3. doi: 10.1016/j.jpag.2026.10.002. Online ahead of print.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
Related trials for Androgen Insensitivity Syndrome
Not yet recruiting
Growing up With the Young Endocrine Support System (YESS!)
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Veronica Gomez-Lobo, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Androgen Insensitivity Syndrome and Metabolic Parameters in AIS, CAIS, PAIS and MAIS, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Veronica Gomez-Lobo, M.D. ((301) 435-7567, veronica.gomez-lobo@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To define and describe a comprehensive phenotype in 500 patients with androgen insensitivity (time frame: End of study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04708431, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Oct 2026.