This study is currently recruiting participants.
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)
Condition(s)
Genetic Disorder; Infertility; Hypogonadism; Amenorrhea
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
Massachusetts General HospitalNational Institute of Environmental Health Sciences
- 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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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).
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).
Principal Investigator
Referral Contact
For more information: