Actively Recruiting
Inherited Reproductive Disorders
Led by National Institute of Environmental Health Sciences (NIEHS) · Updated on 2026-05-12
850
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
Sponsors
N
National Institute of Environmental Health Sciences (NIEHS)
Lead Sponsor
M
Massachusetts General Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Inherited Reproductive Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants with failure to go through a normal, age-appropriate spontaneous puberty and low sex steroid levels with low or normal gonadotropins
- Participants with abnormally early development of puberty
- Participants with normal puberty followed by low gonadotropin levels
- Individuals with features indicating increased risk of hypogonadotropic hypogonadism
- Family members, both affected and unaffected, are encouraged to participate
You will not qualify if you...
- Patients with additional pituitary deficiencies that rule out isolated GnRH deficiency, whether congenital or acquired
- Patients taking medications known to affect GnRH secretion, such as corticosteroids or continuous opiate administration (or who were taking these at diagnosis)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
NIEHS Clinical Research Unit (CRU)
Research Triangle Park, North Carolina, United States, 27713
Actively Recruiting
Research Team
N
NIEHS Join A Study Recruitment Group
CONTACT
N
Natalie D Shaw, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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