About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

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).

Trial population

Primary Clinical, self-referred or physician-referred subjects

Trial design

Design model

Case-only

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

850 Participants

are grouped into 2 trial groups

Group A: Central Precious Puberty

Group B: Hypogonadotropic Hypogonadism

Trial outcomes

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.

Time frame

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.