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

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Jan 13, 2021

Keywords

ClinConnect Summary

This clinical trial, titled "Androgen Receptor, Implications for Health and Wellbeing," is studying a rare condition called Androgen Insensitivity Syndrome (AIS). People with AIS have difficulty sensing male hormones in their bodies, which can affect their overall health. The goal of this study is to better understand how AIS impacts individuals over time, including their hormone levels, bone health, heart health, and quality of life. The researchers will collect data through various tests and assessments but will not provide any treatments or interventions.

Individuals of all ages, from newborns to seniors, who have been diagnosed with AIS and their adult relatives may be eligible to participate. Participants will undergo several evaluations, including medical history reviews, physical exams, blood tests, and imaging studies, which will help researchers learn more about AIS. Participation in the study involves visits every one to two years, and adult relatives can join for a single visit. This study aims to improve understanding and management of AIS, ultimately benefiting those affected by this condition.

Gender

ALL

Eligibility 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 0-99 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 diagnosis 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.