The Molecular Basis of Inherited Reproductive Disorders

Stephanie B. Seminara, MD

Status: Enrolling

Conditions: Delayed Puberty; Kallmann Syndrome; Reproductive Disorder; Hypogonadotropic Hypogonadism

Study type: Observational

Funder types: Other

Identifiers

NCT05971836

2020P000762

Details and patient eligibility

About

The goal of this study is to learn more about the genes that control puberty and reproduction in humans.

Full 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.

Enrollment: 600 estimated patients

Sex: All

Ages: 1+ year old

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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

Trial design

600 participants in 1 patient group

Subjects with Reproductive Disorders

Description:

Individuals with reproductive disorders and their affected and unaffected family members