Inherited Reproductive Disorders

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Environmental Health Sciences (NIEHS)
Study ID
NCT01500447
Status
Recruiting
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Conditions

  • Amenorrhea
  • Genetic Disorder
  • Hypogonadism
  • Infertility

Eligibility Criteria

Sex
ALL
Age
6 Weeks - 120 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Apr 25, 2012
Status verified
Jun 2026

Study Design

Enrollment
850 participants (estimated)

Arms

  • Arm: Central Precious Puberty
    CPP subjects
  • Arm: Hypogonadotropic Hypogonadism
    IHH, KS, GnRH Deficiency, BAM syndrome (arhinia), HA, CDP subjects

Primary Outcome Measure

The main outcome is the identification of known and novel genetic variants in individuals representing the complete spectrum of idiopathic hypogonadotropic hypogonadism. [ Time Frame: Ongoing/exploratory ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222
NIEHS Clinical Research Unit (CRU)Research Triangle ParkNorth Carolina27713
Natalie Shaw, M.D.
[email protected]
984-287-3716

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By research site
National Institutes of Health Clinical Center· Bethesda, MDNIEHS Clinical Research Unit (CRU)· Research Triangle Park, NC

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