Recruiting

Observational Study

Sponsor:

National Institute of Environmental Health Sciences (NIEHS)

Code:

NCT01500447

Conditions

Genetic Disorder

Infertility

Hypogonadism

Amenorrhea

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

Background:

\- During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later in life. Researchers want to study people with reproductive disorders to learn more about how these disorders may be inherited.

Objectives:

\- To learn how reproductive system disorders may be inherited.

Eligibility:

  • People with one of the following problems:
  • Abnormally early puberty
  • Abnormally late or no puberty
  • Normal puberty with hormonal problems that develop later in life
  • People who have not yet had puberty but have symptoms that indicate low hormone levels.

Design:

  • Participants will provide a blood sample for testing. They will complete a questionnaire about their symptoms. They will also have a scratch-and-sniff test to study any problems with their ability to smell.
  • Participant medical records will be reviewed. Participants will also provide a family medical history.
  • Family members of those in the study may be invited to participate.
  • Treatment will not be provided as part of this study.

Conditions

Genetic Disorder

Infertility

Hypogonadism

Amenorrhea

Study ID

NCT01500447

Start date

Apr 25, 2012

Status verified date

Jun 3, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • INCLUSION CRITERIA:

The essential inclusion criteria include:

1. failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low/normal gonadotropins (due to substantial variability among patient presentations, this will be based on the clinical judgement of the Investigator), or
2. abnormally early development of puberty, or
3. normal puberty with subsequent development of low gonadotropin levels, or
4. individuals with features indicating an increased risk of hypogonadotropic hypogonadism.
5. Family members: both affected and unaffected family members are strongly encouraged to participate.

EXCLUSION CRITERIA:

Since hypogonadotropic hypogonadism is a rare condition, this protocol remains open to enrollment so that we may study all subjects that are both qualified and interested in participating.

Because HH represents a spectrum, where associated clinical findings may provide phenotypic clues to the assessment of inheritability and underlying physiology, exclusion criteria are very limited:

  • 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).

Study Design

Enrollment

850 participants

Anticipated

Interventions and Outcome Measures

Arms

Central Precious Puberty

CPP subjects

Hypogonadotropic Hypogonadism

IHH, KS, GnRH Deficiency, BAM syndrome (arhinia), HA, CDP subjects

Primary outcome measure

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

Central Contacts and Locations

Central contacts

NIEHS Join A Study Recruitment Group

(855) 696-4347myniehs@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

NIEHS Clinical Research Unit (CRU)

Recruiting

Research Triangle Park, North Carolina, United States, 27713

Contacts

More Information

Sponsor

National Institute of Environmental Health Sciences (NIEHS)

Last update posted

Jul 28, 2026

Last verified

Jun 3, 2026

Keywords

  • Hypogonadotropic Hypogonadism
  • Kallmann Syndrome
  • Delayed Puberty
  • Hypothalamic Amenorrhea
  • Precocious Puberty
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by National Institute of Environmental Health Sciences (NIEHS) on 2026-07-28.