Inherited Reproductive Disorders

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.

Conditions

Genetic Disorder, Infertility, Hypogonadism, Amenorrhea

Study Overview

Study Details

Study overview

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.

The Molecular Basis of Inherited Reproductive Disorders

Inherited Reproductive Disorders

Condition
Genetic Disorder
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Research Triangle Park

NIEHS Clinical Research Unit (CRU), Research Triangle Park, North Carolina, United States, 27713

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.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 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.
  • * 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).

Ages Eligible for Study

6 Weeks to 120 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

National Institute of Environmental Health Sciences (NIEHS),

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

Study Record Dates

N/A