RecruitingNCT01500447

Inherited Reproductive Disorders

The Molecular Basis of Inherited Reproductive Disorders


Sponsor

National Institute of Environmental Health Sciences (NIEHS)

Enrollment

850 participants

Start Date

Apr 25, 2012

Study Type

OBSERVATIONAL

Conditions

Summary

Background: \- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later in life. Researchers want to study people with reproductive disorders to learn more about how these disorders may be inherited. Objectives: \- To learn how reproductive system disorders may be inherited. Eligibility: * People with one of the following problems: * Abnormally early puberty * Abnormally late or no puberty * Normal puberty with hormonal problems that develop later in life * People who have not yet had puberty but have symptoms that indicate low hormone levels. Design: * Participants will provide a blood sample for testing. They will complete a questionnaire about their symptoms. They will also have a scratch-and-sniff test to study any problems with their ability to smell. * Participant medical records will be reviewed. Participants will also provide a family medical history. * Family members of those in the study may be invited to participate. * Treatment will not be provided as part of this study.


Eligibility

Min Age: 6 WeeksMax Age: 120 Years

Plain Language Summary

Simplified for easier understanding

This study investigates inherited reproductive disorders — particularly hypogonadotropic hypogonadism (HH), a condition where the body doesn't produce enough sex hormones due to a problem with the brain's signaling system. Researchers examine patients and their family members to understand the genetic and hormonal causes. You may be eligible if: - You failed to go through normal puberty and have low sex hormone levels with low or normal gonadotropins - You went through puberty abnormally early - You went through normal puberty but later developed low gonadotropin levels - You have features suggesting increased risk of hypogonadotropic hypogonadism - You are a family member (affected or unaffected) of someone with one of these conditions - There is no age restriction You may NOT be eligible if: - You have additional pituitary hormone deficiencies beyond the reproductive axis (suggesting a broader pituitary problem rather than isolated GnRH deficiency) - You are taking corticosteroids or continuous opiates that affect GnRH secretion (or were at the time of diagnosis) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(2)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

NIEHS Clinical Research Unit (CRU)

Research Triangle Park, North Carolina, United States

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NCT01500447


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