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X-Chromosome Inactivation Status and Premature Ovarian Failure

This study has been completed.
Information provided by (Responsible Party):
University of Pittsburgh Identifier:
First received: February 17, 2006
Last updated: December 5, 2014
Last verified: December 2014
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:

Primary Outcome Measures:
  • Skewed X-Inactivation appears increased in women with Premature Ovarian Failure [ Time Frame: 4 years ]

Biospecimen Retention:   Samples With DNA
DNA that is extracted from the blood specimen

Enrollment: 13
Study Start Date: November 2005
Study Completion Date: October 2009
Primary Completion Date: October 2009 (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   (Adult)
Sexes 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

Responsible Party: University of Pittsburgh Identifier: NCT00295087     History of Changes
Other Study ID Numbers: 0511043
Study First Received: February 17, 2006
Last Updated: December 5, 2014

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

Additional relevant MeSH terms:
Premature Birth
Primary Ovarian Insufficiency
Menopause, Premature
Obstetric Labor, Premature
Obstetric Labor Complications
Pregnancy Complications
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases processed this record on September 25, 2017