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Observational Study of Inherited Reproductive Disorders

This study aims to understand how reproductive disorders, like infertility or problems with puberty, can be passed down in families. Researchers are looking for genetic changes (variants) in people who have conditions such as abnormally early puberty, abnormally late or absent puberty, or normal puberty followed by hormone problems later in life. There are no specific interventions or drugs being tested; instead, researchers are observing and collecting information from participants to identify new and known genetic factors that contribute to these conditions. The main goal is to find these genetic variants to better understand the full range of idiopathic hypogonadotropic hypogonadism (IHH), a condition where the body doesn't produce enough hormones needed for sexual development.

Study design
This is an observational study with a planned enrollment of 850 participants. It is not testing a specific treatment.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The primary outcome of identifying genetic variants is measured on an ongoing/exploratory basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT01500447

Inherited Reproductive Disorders

Recruiting
Not specifiedAges 6+Observational
National Institute of Environmental Health Sciences (NIEHS)
~850 participants
Updated 2026-07-28 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
The main outcome is the identification of known and novel genetic variants in individuals representing the complete spectrum of idiopathic hypogonadotropic hypogonadism.
Measured over Ongoing/exploratory

Conditions

Genetic Disorder
Infertility
Hypogonadism
Amenorrhea

Explore related trials

AmenorrheaDelayed PubertyGenetic DisorderHypogonadismHypogonadotropic HypogonadismInfertilityPrecocious Puberty

Where it's being run

2 sites across 2 states
Maryland1
North Carolina1

Study leadership

  • Natalie D Shaw, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Environmental Health Sciences (NIEHS)

Who to contact

NIEHS Join A Study Recruitment Group
[email protected]
(855) 696-4347
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Exclusion

Patients who have additional pituitary deficiencies, effectively ruling out isolated GnRH deficiency, whether these deficiencies are congenital or acquired (e.g. secondary to malignancy, infection, or irradiation).
Patients who are taking medications known to affect GnRH secretion, such as corticosteroids or continuous opiate administration (or were taking them at the time of diagnosis).

What this trial measures

  • The main outcome is the identification of known and novel genetic variants in individuals representing the complete spectrum of idiopathic hypogonadotropic hypogonadism.Ongoing/exploratory

    The main outcome is the identification of known and novel genetic variants in individuals representing the complete spectrum of idiopathic hypogonadotropic hypogonadism.