Inherited Reproductive Disorders
Recruiting now
Conditions studied: Genetic Disorder, Infertility, Hypogonadism, Amenorrhea
In brief
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 facts
- Study ID
- NCT01500447
- Run by
- National Institute of Environmental Health Sciences (NIEHS)
- People needed
- 850
- Starts
- 2012-04-25
- Last updated by the study team
- 2026-07-28
Who can join
Age: 0 and older, up to 120. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Since hypogonadotropic hypogonadism is a rare condition, this protocol remains open to enrollment so that we may study all subjects that are both qualified and interested in participating.
- Because HH represents a spectrum, where associated clinical findings may provide phenotypic clues to the assessment of inheritability and underlying physiology, exclusion criteria are very limited:
- Patients who have additional pituitary deficiencies, effectively ruling out isolated GnRH deficiency, whether these deficiencies are congenital or acquired (e.g. secondary to malignancy, infection, or irradiation).
- Patients who are taking medications known to affect GnRH secretion, such as corticosteroids or continuous opiate administration (or were taking them at the time of diagnosis).
Where it is running
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (enrolling)
- NIEHS Clinical Research Unit (CRU) — Research Triangle Park, North Carolina, United States (enrolling)
Full record on ClinicalTrials.gov
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