X-Chromosome Inactivation Status and Premature Ovarian Failure

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

13 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-11-30

Study Completion Date

2009-10-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Premature Ovarian Failure

Keywords

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Premature Ovarian Failure X-Chromosome Inactivation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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.

Minimum Eligible Age

20 Years

Maximum Eligible Age

40 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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W. Allen Hogge, MD

Role: PRINCIPAL_INVESTIGATOR

University of Pittsburgh and Magee-Womens Hospital

Locations

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Magee-Womens Hospital

Pittsburgh, Pennsylvania, United States

Site Status

Countries

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United States

Other Identifiers

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0511043

Identifier Type: -

Identifier Source: org_study_id