The Molecular Basis of Inherited Reproductive Disorders
Purpose
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.
Conditions
- Hypogonadotropic Hypogonadism
- Reproductive Disorder
- Kallmann Syndrome
- Delayed Puberty
Eligibility
- Eligible Ages
- Over 1 Year
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
Criteria
Participants must belong to one of the following categories:
- Failure to go through a normal, age-appropriate, spontaneous puberty and low sex
steroid levels in the setting of low/normal gonadotropins or,
- Abnormally early development of puberty or,
- Normal puberty with subsequent development of low gonadotropin levels or,
- Evidence of a reproductive disorder with high gonadotropin levels or,
- Pre-pubertal individuals with features suggestive of hypogonadotropic hypogonadism
or,
- Affected and unaffected family members of individuals that fit criteria above
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Subjects with Reproductive Disorders | Individuals with reproductive disorders and their affected and unaffected family members |
Recruiting Locations
Boston, Massachusetts 02114
More Details
- Status
- Recruiting
- Sponsor
- Stephanie B. Seminara, MD
Detailed Description
All study subjects will undergo the same activities. Subjects will provide up to five tubes of blood for genetic analysis, complete a smell test, and answer questions about their health and family history.