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Protocol Details

The Molecular Basis of Inherited Reproductive Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

12-E-0049

Sponsoring Institute

National Institute of Environmental Health Sciences (NIEHS)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 6 wk
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

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

Recruitment Keyword(s)

None

Condition(s)

Genetic Disorder;
Infertility;
Hypogonadism;
Amenorrhea

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

Massachusetts General HospitalNational Institute of Environmental Health Sciences

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.

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Eligibility

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).


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Natalie D. Shaw, M.D.
National Institute of Environmental Health Sciences (NIEHS)
RTP 101 DAVID P RALL BUILDING BG RM D308
111 TW ALEXANDER DR
DURHAM NC 27709
(984) 287-3716
natalie.shaw@nih.gov

NIEHS Join A Study Recruitment Group
National Institute of Environmental Health Sciences (NIEHS)

(855) 696-4347
myniehs@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT01500447

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