Understanding inherited reproductive disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate how reproductive system disorders, such as hypogonadotropic hypogonadism and abnormal puberty timing, may be inherited. Participants will provide blood samples and complete questionnaires about their symptoms, along with a scratch-and-sniff test. The study focuses on individuals with delayed, absent, or early puberty, as well as those with hormonal issues that develop later in life. By studying these conditions, researchers hope to uncover the genetic factors involved in reproductive disorders.

Why it matters

Who can join: the full rules

* 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).

Where it's running

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

Study contacts

• Principal investigator: Natalie D Shaw, M.D. — National Institute of Environmental Health Sciences (NIEHS)
• Study coordinator: NIEHS Join A Study Recruitment Group
• Email: myniehs@nih.gov
• Phone: (855) 696-4347

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.