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The Clinical Study of Sex Chromosome Variants

NCT01661010 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 112

Last updated 2026-04-08

No results posted yet for this study

Summary

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.

Conditions

  • Male Factor Infertility
  • Female Factor Infertility

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Ashley J Buscetta, C.R.N.P. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-07-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01661010 on ClinicalTrials.gov