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CompletedNCT01661010Updated Oct 8, 2026

The Clinical Study of Sex Chromosome Variants

An observational study in Male Factor Infertility and Female Factor Infertility, sponsored by National Human Genome Research Institute (NHGRI). Completed at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-10-08.

Sponsored by National Human Genome Research Institute (NHGRI) · Observational

Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
112
Ages
18 Years and older
Sex
All
01

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.
Read the 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 sex-chromosome variants through detailed physical, radiologic, and laboratory studies. We will concentrate on a group of patients (both male and female) with known sex-chromosome variationsfully characterized through genetic sequencing and karyotyping. Other patients with

sex chromosome variants will be invited depending on the variant described. Patients recruited and consenting to this study will be evaluated at the NIH Clinical Center

02

Conditions studied

  • Male Factor Infertility
  • Female Factor Infertility

Keywords

  • Infertility
  • Turner Syndrome
  • X-Chromosome
  • Y-Chromosome
  • Aneuploidy
  • Natural History
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In context

Infertility

2,085 studies on the registry are indexed under Infertility; 357 are open to participants now.

This study's enrollment of 112 is below the median of 200 across 592 observational studies indexed under Infertility.

Browse Infertility studies →

Lead sponsor

National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.

Browse National Human Genome Research Institute (NHGRI) studies →

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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.@@@

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  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.

    1. 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.
    2. Willing family members of subjects enrolled may be enrolled as control subjects.

Exclusion criteria

EXCLUSION CRITERIA:

  1. 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).
  2. We reserve the right to exclude cases that are clearly not related to sex-chromosome 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 sex-chromosome variant cases for research purposes.

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Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
112 participants (actual)

Groups and cohorts

  • Control

    Family members can serve as control group

  • Sex-linked genes

    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.

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What researchers measure

Primary outcomes

  1. Phenotype

    To characterize the physical, reproductive, endocrinologic and radiologic phenotype of a group of patients who have known sex-chromosome structural and copy-number variants.

    Time frame: Ongoing

  2. Spectrum

    To examine the spectrum of clinical characteristics of infertility and other conditions related to sex-chromosome variants and facilitate early clinical recognition, diagnostic confirmation, anticipatory management, prognostication, and proper genetic counseling.

    Time frame: Ongoing

07

Study locations

1 site
  • National Institutes of Health Clinical Center
    Bethesda, Maryland 20892, United States
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References and documents

Publications

  • Brandell RA, Mielnik A, Liotta D, Ye Z, Veeck LL, Palermo GD, Schlegel PN. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Hum Reprod. 1998 Oct;13(1O):2812-5. doi: 10.1093/humrep/13.10.2812. PubMed 9804236 ↗
  • Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. doi: 10.1210/jc.2006-1374. Epub 2006 Oct 17. PubMed 17047017 ↗
  • Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. 1990 Nov 29;348(6300):448-50. doi: 10.1038/348448A0. PubMed 2247149 ↗

Individual participant data

Plan to share: Undecided

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Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Oct 8, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT01661010
Lead sponsor
National Human Genome Research Institute (NHGRI)
Responsible party
Sponsor
First posted
Aug 9, 2012
Start date
Jul 30, 2012
Last update
Oct 8, 2026

Study contacts

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

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jun 2026. You cannot join it, but the record below documents what was studied.

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