Last updated on January 2020

The Clinical Study of Sex Chromosome Variants

Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: 45 | Female Factor Infertility | XYY | XXY | XXX | Male Factor Infertility | Klinefelter's Syndrome | 47 | X | Turner's Syndrome
  • Age: Between 18 - 100 Years
  • Gender: Male or Female

    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.

Recruitment Status: Open

Brief Description Eligibility Contact Research Team

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