Scientists hunt for genes that control puberty

NCT ID NCT05971836

Knowledge-focused Sponsor: Stephanie B. Seminara, MD Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jul 14, 2026 · Updated 4 times

Summary

This study aims to find the genes involved in inherited reproductive disorders, such as delayed or early puberty and low hormone levels. Researchers will analyze genetic data from 600 participants with these conditions. The goal is to identify genetic variations that may explain why some people have trouble with puberty or reproduction.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to: If successful, this could uncover new genetic targets for diagnosing or treating reproductive disorders like delayed puberty or Kallmann syndrome.
What could go wrong: This is an observational study, not a treatment trial. It may not directly lead to therapies, and genetic findings may not apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

854 people

The number who actually took part.

Started

Jan 2021

Finished

Mar 2026

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Healthy controls and individuals with reproductive disorders and their affected and unaffected family members

Ages

1 year and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

constitutional delay of growth and puberty delayed puberty, self-limited hypogonadism hypogonadotropic hypogonadism Kallmann syndrome Puberty, Delayed reproductive system disorder

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Delayed puberty Hypogonadotropic hypogonadism Kallmann syndrome Reproductive disorder

Scientists hunt for genes that control puberty

What the study statuses mean