Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
Angela Delaney, Adam B Burkholder, Christopher A Lavender...
https://pubmed.ncbi.nlm.nih.gov/32870266Actively Recruiting
Age: 6Weeks - 120Years
All Genders
ID01500447
The Molecular Basis of Inherited Reproductive Disorders
Led by National Institute of Environmental Health Sciences (NIEHS) · Updated on 2026-06-05
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
Researchers are studying inherited reproductive disorders that affect puberty and reproductive hormone levels. These disorders include abnormally early or late puberty, normal puberty followed by hormonal problems, and symptoms indicating low hormone levels before puberty. The study aims to understand how these disorders may be passed down in families by examining genetic variants and their effects on reproductive development. Participants will provide blood samples for genetic testing and complete questionnaires about their symptoms. They will also take a scratch-and-sniff test to assess their sense of smell. Researchers will review medical records and collect family medical histories. Family members of participants may also be invited to join the study. No treatment is provided as part of this research. During the study, researchers will analyze genetic information to identify known and new gene variants linked to reproductive disorders. They will compare genetic findings with clinical features and hormone levels. The main outcome is to discover genetic causes of idiopathic hypogonadotropic hypogonadism and related conditions. Participation involves sample collection, symptom surveys, medical record review, and family history, with ongoing exploratory genetic analysis.
CONDITIONS
Brief Title
Inherited Reproductive Disorders
Who Can Participate
Age: 6Weeks - 120Years
All Genders
Eligibility Criteria
You may qualify if you...
- Failure to undergo normal, age-appropriate puberty with low sex steroid levels and low/normal gonadotropins based on clinical judgment
- Abnormally early development of puberty
- Normal puberty followed by development of low gonadotropin levels
- Features indicating increased risk of hypogonadotropic hypogonadism
- Family members, both affected and unaffected, are encouraged to participate
You will not qualify if you...
- Presence of additional pituitary deficiencies ruling out isolated GnRH deficiency
- Use of medications known to affect GnRH secretion, such as corticosteroids or continuous opiates, currently or at diagnosis
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Diagnostic Evaluation
Duration - Ongoing/exploratory
Participants undergo genetic and clinical evaluations to identify known and novel genetic variants associated with reproductive disorders.
Long-term Monitoring
Duration - Ongoing/exploratory
Participants are observed over time to study phenotypic correlations and gain insights into puberty and fertility disorders.
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
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Research Team
N
NIEHS Join A Study Recruitment Group
N
Natalie D Shaw, M.D.
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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Published Research Related To This Trial
Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome.
Brooke N Meader, Alessandro Albano, Hilal Sekizkardes...
https://pubmed.ncbi.nlm.nih.gov/32480405