Clinical Study of Y Chromosome Variants and Infertility

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2014 by National Institutes of Health Clinical Center (CC)
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: August 7, 2012
Last updated: June 21, 2014
Last verified: April 2014


- 10% of couples has difficulty having children. The term infertility is used when a couple tries to have a child and is unable to get pregnant within 1 year, or is unable to carry a pregnancy to 20 weeks for three or more pregnancies. The causes of infertility include issues involving both men and women. Some of the known causes are endometriosis; decreases in fertility due to aging; problems with the ovaries, fallopian tubes, or uterus; and problems with the men s sperm. However, the genetic causes of infertility are not well understood. Sometimes, infertility is related to chromosome differences in both men and women. Chromosomes are the structures inside of each cell that carry our genetic material (genes). Certain differences in the Y chromosome are known to cause infertility. However, it is not known whether people with Y chromosome differences (missing or extra Y chromosome material) have medical conditions other than infertility. This study is seeking to learn whether persons with Y chromosome differences have other health issues in addition to infertility.


- To study related medical conditions in people with a known genetic cause of infertility related to the Y chromosome.


-In the event that a patient with a Y-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.


  • Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected.
  • This study will last about 4 to 5 days. Participants will have a variety of endocrine and other tests. They will provide blood, urine, and semen samples for these tests. No genetic tests will be done as a part of this study; however, DNA from participants will be stored and may be used in future studies.
  • 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.
  • Treatment will not be provided as part of this study.

Male Factor Infertility
Female Factor Infertility
Turner Syndrome

Study Type: Observational
Official Title: The Clinical Study of Patients With Y 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 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
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

    1. Patients previously identified through the Page lab as having Y-chromosome variants causing deletion/duplication of Y-linked genes, male and female, with infertility.
    2. In the event that a patient with a Y-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
Principal Investigator: Maximilian Muenke, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications: Identifier: NCT01661010     History of Changes
Other Study ID Numbers: 120181, 12-HG-0181
Study First Received: August 7, 2012
Last Updated: June 21, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Male Factor Infertility
Female Factor Infertility
Unexplained Infertility
Sex Chromosome

Additional relevant MeSH terms:
Genital Diseases, Female
Gonadal Dysgenesis
Primary Ovarian Insufficiency
Turner Syndrome
Adnexal Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Disorders of Sex Development
Endocrine System Diseases
Genetic Diseases, Inborn
Genital Diseases, Male
Gonadal Disorders
Heart Defects, Congenital
Heart Diseases
Ovarian Diseases
Sex Chromosome Disorders
Sex Chromosome Disorders of Sex Development
Urogenital Abnormalities processed this record on October 23, 2014