Status:
RECRUITING
Inherited Reproductive Disorders
Lead Sponsor:
National Institute of Environmental Health Sciences (NIEHS)
Collaborating Sponsors:
Massachusetts General Hospital
Conditions:
Genetic Disorder
Infertility
Eligibility:
All Genders
6-120 years
Brief Summary
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 s...
Detailed Description
The key initiating factors for reproductive development remain among the great mysteries of pediatric and reproductive endocrinology. The onset of puberty is initiated by pulsatile secretion of gonado...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- The essential inclusion criteria include:
- 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
- abnormally early development of puberty, or
- normal puberty with subsequent development of low gonadotropin levels, or
- individuals with features indicating an increased risk of hypogonadotropic hypogonadism.
- 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).
Exclusion
Key Trial Info
Start Date :
April 25 2012
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
850 Patients enrolled
Trial Details
Trial ID
NCT01500447
Start Date
April 25 2012
Last Update
January 9 2026
Active Locations (2)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
2
NIEHS Clinical Research Unit (CRU)
Research Triangle Park, North Carolina, United States, 27713