Inherited Reproductive Disorders
The Molecular Basis of Inherited Reproductive Disorders
2 other identifiers
observational
850
1 country
2
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
2 active sites
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Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
December 21, 2011
CompletedFirst Posted
Study publicly available on registry
December 28, 2011
CompletedStudy Start
First participant enrolled
April 25, 2012
CompletedJune 5, 2026
June 3, 2026
December 21, 2011
June 4, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
The main outcome is the identification of known and novel genetic variants in individuals representing the complete spectrum of idiopathic hypogonadotropic hypogonadism.
The main outcome is the identification of known and novel genetic variants in individuals representing the complete spectrum of idiopathic hypogonadotropic hypogonadism.
Ongoing/exploratory
Secondary Outcomes (1)
Phenotypic correlations, made by comparing the results of the genotypic analysis with clinical and/or biochemical characteristics, as well as the discovery of genes worthy of further functional analysis.
Ongoing/exploratory
Study Arms (2)
Central Precious Puberty
CPP subjects
Hypogonadotropic Hypogonadism
IHH, KS, GnRH Deficiency, BAM syndrome (arhinia), HA, CDP subjects
Eligibility Criteria
Primary Clinical, self-referred or physician-referred subjects
You may qualify if:
- 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
- abnormally early development of puberty, or
- normal puberty with subsequent development of low gonadotropin levels, or
- individuals with features indicating an increased risk of hypogonadotropic hypogonadism.
- Family members: both affected and unaffected family members are strongly encouraged to participate.
You may not qualify if:
- 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.
- 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).
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
NIEHS Clinical Research Unit (CRU)
Research Triangle Park, North Carolina, 27713, United States
Related Publications (2)
Delaney A, Burkholder AB, Lavender CA, Plummer L, Mericq V, Merino PM, Quinton R, Lewis KL, Meader BN, Albano A, Shaw ND, Welt CK, Martin KA, Seminara SB, Biesecker LG, Bailey-Wilson JE, Hall JE. Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea. J Clin Endocrinol Metab. 2021 Mar 8;106(3):e1441-e1452. doi: 10.1210/clinem/dgaa609.
PMID: 32870266DERIVEDMeader BN, Albano A, Sekizkardes H, Delaney A. Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome. J Clin Endocrinol Metab. 2020 Aug 1;105(8):2732-9. doi: 10.1210/clinem/dgaa331.
PMID: 32480405DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Natalie D Shaw, M.D.
National Institute of Environmental Health Sciences (NIEHS)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
December 21, 2011
First Posted
December 28, 2011
Study Start
April 25, 2012
Last Updated
June 5, 2026
Record last verified: 2026-06-03