Inherited Reproductive Disorders

Launched by NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES (NIEHS) · Dec 22, 2011

Keywords

ClinConnect Summary

This clinical trial is studying inherited reproductive disorders, which are conditions that affect how our bodies develop during puberty and manage hormones. Researchers are particularly interested in understanding how these disorders might be passed down through families. The trial is looking for participants who have experienced issues like starting puberty too early or too late, or who have had normal puberty but later developed hormone problems. It also welcomes individuals showing signs of low hormone levels who have not yet gone through puberty. Family members of participants are encouraged to join as well.

If you decide to participate, you will be asked to provide a blood sample for testing and fill out a questionnaire about your symptoms. You will also undergo a simple scratch-and-sniff test to check your sense of smell. Additionally, your medical history and family medical history will be reviewed. It's important to note that this trial is not providing any treatments; instead, it aims to gather information to better understand these disorders. The study is open to individuals aged 42 and older, and both men and women can participate.

Gender

ALL

Eligibility criteria

• * 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).