The Clinical Study of Sex Chromosome Variants
Public ClinicalTrials.gov record NCT01661010. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
The Clinical Study of Patients With Sex Chromosome Variants
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Purpose/Lay Summary: Background: \- Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the sex chromosomes are known to cause various diseases, such as infertility, Turner syndrome, or Klinefelter syndrome. However, it is not fully understood why these differences are seen and what clinical findings may be caused with different sex chromosome variants. This study is seeking to learn more about the genetic and clinical characteristics of disorders related to the X and Y chromosomes. Objectives: \- To study related medical conditions in people with sex chromosome variants. Eligibility: * Patients with known sex chromosome differences may be eligible to participate. * Healthy volunteers age 18 - 55 Design: * Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. * This study will last about 5 days. Participants will have a variety of endocrine and other tests. They will provide blood, urine, and semen samples for these tests. * Imaging studies of the heart and abdomen will be performed. These tests may include ultrasounds and magnetic resonance imaging. * Participants will also have their vision and hearing checked. * Healthy volunteers with have a single day visit for a medical history, physical exam, and blood and skin samples. * Treatment will not be provided as part of this study. * Compensation is offered.
Study identification
- NCT ID
- NCT01661010
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 112 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 18 Years and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jul 29, 2012
- Primary completion
- Not listed
- Completion
- Not listed
- Last update posted
- Jun 10, 2026
Started 2012
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT01661010, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jun 10, 2026 · Synced Sep 8, 2026
Related: full search, browse by condition, browse by drug or therapy, browse by sponsor, browse by U.S. city.
Open the official record
The complete protocol, eligibility criteria, and contact information for NCT01661010 live on ClinicalTrials.gov.