Delayed Puberty, Hypogonadotropic Hypogonadism, Kallmann Syndrome, Reproductive Disorder
Conditions
Keywords
Hypogonadotropic hypogonadism, Reproductive disorders, Kallmann syndrome, Kisspeptin, Delayed Puberty
Brief summary
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.
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.
Interventions
None listed
Sponsors
Stephanie B. Seminara, MD
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Participants must be healthy controls or 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genetic variation | Day 1 | Identification of one or more genetic variations related to reproductive disorders |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORStephanie Seminara, MD
Massachusetts General Hospital
Outcome results
None listed