NCT01500447

Inherited Reproductive Disorders

Recruiting now Last updated 24 March 2026

What this trial tests

trial in Genetic Disorder in 850 participants. Currently enrolling.

Timeline

25 April 2012

Quick facts

Lead sponsor	National Institute of Environmental Health Sciences (NIEHS)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	850
Start date	25 April 2012
Sites	2 locations across United States

Conditions studied

• Genetic Disorder — all drugs for Genetic Disorder →
• Infertility — all drugs for Infertility →
• Hypogonadism — all drugs for Hypogonadism →
• Amenorrhea — all drugs for Amenorrhea →

Sponsor

National Institute of Environmental Health Sciences (NIEHS)

Who can join

Adults 6 Weeks to 120, any sex, with Genetic Disorder or Infertility. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
   Delaney A, Burkholder AB, Lavender CA, Plummer L, et al · · 2021 · cited 15× · PMID 32870266 · DOI 10.1210/clinem/dgaa609
2. Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome.
   Meader BN, Albano A, Sekizkardes H, Delaney A. · · 2020 · cited 15× · PMID 32480405 · DOI 10.1210/clinem/dgaa331