The Molecular Basis of Inherited Reprod… | Clinical Trial

Key information

Conditions

Hypogonadotropic Hypogonadism Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Delayed Puberty Disorder of Sex Development, 46,XY Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Hypogonadism Kallmann Syndrome Male Urogenital Diseases Puberty, Delayed Reproductive Disorder Urogenital Abnormalities Urogenital Diseases

Age range

1 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Genetic variation

Time frame: Day 1

Identification of one or more genetic variations related to reproductive disorders

Sponsors and collaborators

Lead sponsor

Stephanie B. Seminara, MD

Other

Registry information

Important dates

Study start: 2021
Primary completion: 2026
Study completion: 2026
First posted: Aug 2, 2023
Registry last updated: Jul 13, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed