Understanding inherited reproductive disorders
The Molecular Basis of Inherited Reproductive Disorders
This study looks at how certain reproductive disorders, like delayed or early puberty, might run in families by testing blood samples and gathering information from people who have these issues.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 850 (estimated) |
| Ages | 6 Weeks to 120 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Trial ID | NCT01500447 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate how reproductive system disorders, such as hypogonadotropic hypogonadism and abnormal puberty timing, may be inherited. Participants will provide blood samples and complete questionnaires about their symptoms, along with a scratch-and-sniff test. The study focuses on individuals with delayed, absent, or early puberty, as well as those with hormonal issues that develop later in life. By studying these conditions, researchers hope to uncover the genetic factors involved in reproductive disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals experiencing delayed or absent puberty, early puberty, or hormonal issues following normal puberty.
Not a fit: Patients with reproductive disorders not related to genetic factors may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of inherited reproductive disorders, improving patient outcomes.
How similar studies have performed: Other studies have shown success in understanding genetic factors in reproductive disorders, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: The essential inclusion criteria include: 1. failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low/normal gonadotropins (due to substantial variability among patient presentations, this will be based on the clinical judgement of the Investigator), or 2. abnormally early development of puberty, or 3. normal puberty with subsequent development of low gonadotropin levels, or 4. individuals with features indicating an increased risk of hypogonadotropic hypogonadism. 5. Family members: both affected and unaffected family members are strongly encouraged to participate. EXCLUSION CRITERIA: 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 this trial is running
Bethesda, Maryland and 1 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- NIEHS Clinical Research Unit (CRU) — Research Triangle Park, North Carolina, United States (Recruiting)
Study contacts
- Principal investigator: Natalie D Shaw, M.D. — National Institute of Environmental Health Sciences (NIEHS)
- Study coordinator: NIEHS Join A Study Recruitment Group
- Email: myniehs@nih.gov
- Phone: (855) 696-4347
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.