RECRUITING

Inherited Reproductive Disorders

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

The Molecular Basis of Inherited Reproductive Disorders

Quick Facts

Study Start:2012-04-25
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01500447

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:6 Weeks to 120 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 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. 2. abnormally early development of puberty, or
  3. 3. normal puberty with subsequent development of low gonadotropin levels, or
  4. 4. individuals with features indicating an increased risk of hypogonadotropic hypogonadism.
  5. 5. Family members: both affected and unaffected family members are strongly encouraged to participate.
  1. * 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).
  2. * 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).

Contacts and Locations

Study Contact

NIEHS Join A Study Recruitment Group
CONTACT
(855) 696-4347
myniehs@nih.gov
Natalie D Shaw, M.D.
CONTACT
(984) 287-3716
natalie.shaw@nih.gov

Principal Investigator

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

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States
NIEHS Clinical Research Unit (CRU)
Research Triangle Park, North Carolina, 27713
United States

Collaborators and Investigators

Sponsor: National Institute of Environmental Health Sciences (NIEHS)

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2012-04-25
Study Completion DateN/A

Study Record Updates

Study Start Date2012-04-25
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

  • Genetic Disorder
  • Infertility
  • Hypogonadism
  • Amenorrhea