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X-Chromosome Inactivation Status and Premature Ovarian Failure

The recruitment status of this study is unknown because the information has not been verified recently.
Verified March 2009 by University of Pittsburgh.
Recruitment status was  Active, not recruiting
Information provided by:
University of Pittsburgh Identifier:
First received: February 17, 2006
Last updated: March 11, 2009
Last verified: March 2009

Women who are affected with premature ovarian failure will exhibit skewed X-chromosome inactivation patterns compared to women with normal menstrual function (as defined by being pregnant), indicating a possible X-chromosome defect.

Premature Ovarian Failure

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: X-Chromosome Inactivation Status and Premature Ovarian Failure

Resource links provided by NLM:

Further study details as provided by University of Pittsburgh:

Biospecimen Retention:   Samples With DNA

DNA that is extarcted from the blood specimen

Estimated Enrollment: 40
Study Start Date: November 2005
Estimated Study Completion Date: May 2009
Estimated Primary Completion Date: November 2008 (Final data collection date for primary outcome measure)
Detailed Description:

Premature ovarian failure (POF) affects approximately 1% of women. For most women a cause is not found, but structural abnormalities of the X-chromosome commonly lead to POF, suggesting genes on the X-chromosome are necessary for normal ovarian function. It is known that certain gene mutations on the X-chromosome can lead to changes in the normal random pattern of X-chromosome inactivation in females.

We propose to study X-inactivation patterns in a cohort of women with idiopathic POF, and compare their pattern to a mean age-matched cohort of women with normal menstrual function.

We hypothesize that some women with POF will show skewed X-inactivation, suggesting a mutation on the X-chromosome as the etiology of their POF.


Ages Eligible for Study:   20 Years to 40 Years
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Study population will include women diagnosed with POF through clinics. Women diagnosed with POF may also inquire about this study through the Clinical Trials website.


Inclusion Criteria:

  • Women diagnosed with POF.
  • A chromosomal analysis must have been performed to evaluate X-chromosomal abnormalities, and the results are known to be normal.

Exclusion Criteria:

  • Patients who have a known etiology for their POF and/or an inability to obtain karyotype results for these patients or unknown X-chromosome abnormalities.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00295087

United States, Pennsylvania
Magee-Womens Hospital
Pittsburgh, Pennsylvania, United States, 15213
Sponsors and Collaborators
University of Pittsburgh
Principal Investigator: W. Allen Hogge, MD University of Pittsburgh and Magee-Womens Hospital
  More Information

No publications provided

Responsible Party: W. Allen Hogge, MD, University of Pittsburgh/Magee-Womens Hospital Identifier: NCT00295087     History of Changes
Other Study ID Numbers: 0511043
Study First Received: February 17, 2006
Last Updated: March 11, 2009
Health Authority: United States: Institutional Review Board

Keywords provided by University of Pittsburgh:
Premature Ovarian Failure
X-Chromosome Inactivation

Additional relevant MeSH terms:
Menopause, Premature
Primary Ovarian Insufficiency
Adnexal Diseases
Endocrine System Diseases
Genital Diseases, Female
Gonadal Disorders
Ovarian Diseases processed this record on November 27, 2014