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The Clinical Study of Sex Chromosome Variants

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 6, 2017 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ) Identifier:
First received: August 7, 2012
Last updated: April 20, 2017
Last verified: March 6, 2017

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.


- To study related medical conditions in people with sex chromosome variants.


  • Patients with known sex chromosome differences may be eligible to participate.
  • Healthy volunteers age 18 - 55


  • 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.

Klinefelter Syndrome
Male Factor Infertility
Female Factor Infertility
Turner Syndrome
47, XYY
47, XXX
47, XXY
45, X

Study Type: Observational
Study Design: Time Perspective: Other
Official Title: The Clinical Study of Patients With Sex Chromosome Variants

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 150
Study Start Date: July 30, 2012
Detailed Description:
Infertility is a disease that affects approximately 10% of couples world-wide. Causes of infertility are varied and include age-related decline in fecundity, other causes of ovulatory dysfunction, tubal and pelvic pathology, male causes, idiopathic, and multifactorial. The underlying genetic causes of infertility are incompletely understood. The purpose of this study is to increase our understanding of the genetic and clinical manifestations of infertility related to Ychromosome differences through detailed physical, radiologic, and laboratory studies. We will concentrate on a group of patients (both male and female) with known Y-chromosome variations and infertility previously identified by our collaborator, Dr. David Page s lab. Patients recruited and consenting to this study will be evaluated at the NIH Clinical Center.

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

    1. Patients previously identified through outside research or diagnostic labs as having sex-chromosome variants causing deletion/duplication of sex-linked genes or entire sex chromosomes, male and female.
    2. In the event that a patient with a sex-chromosome variant self-refers to the protocol, medical records will be reviewed by a committee to include Dr. David Page, Dr. Maximilian Muenke, and others to decide whether the patient is appropriate for enrollment in the protocol.
    3. Willing family members of subjects enrolled may be enrolled as control subjects.


  1. Anyone unwilling to provide informed consent or assent.
  2. We reserve the right to exclude patients with medical conditions that would place a potential participant at high risk of complications if managed at the NIH clinical center (ex. dialysis dependency, unstable cardiac conditions, unstable severe depression/suicidality).
  3. We reserve the right to exclude cases that are clearly not related to Ychromosome variants, infertility or our direct research interests (e.g. infertility with clearly non-genetic etiology). This almost never happens, and we would attempt to make referrals to a more appropriate investigator.

It is our intention to try to remove as many economic, cultural, geographic, racial, and gender barriers as we reasonably can to promote a diverse participation of infertility cases for research purposes.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01661010

Contact: Maximilian Muenke, M.D. (301) 402-8167

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Responsible Party: National Human Genome Research Institute (NHGRI) Identifier: NCT01661010     History of Changes
Other Study ID Numbers: 120181
Study First Received: August 7, 2012
Last Updated: April 20, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Male Factor Infertility
Female Factor Infertility
Unexplained Infertility
Sex Chromosome
Klinefelter Syndrome
Turner's Syndrome
Y Chromosome Deletion

Additional relevant MeSH terms:
Primary Ovarian Insufficiency
Turner Syndrome
Gonadal Dysgenesis
Klinefelter Syndrome
Pathologic Processes
Genital Diseases, Male
Genital Diseases, Female
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders of Sex Development
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Ovarian Diseases
Adnexal Diseases
Hypogonadism processed this record on April 26, 2017