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| ID | Type | Description | Link |
|---|---|---|---|
| 20-CH-0126 |
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Background:
Gynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract. Researchers want to gather data over time from a large group of young people with these conditions.
Objective:
To create a database about child and teenage gynecologic conditions.
Eligibility:
Participants of any age with known or suspected pediatric and adolescent gynecologic conditions, and their adult family members
Design:
Participants will be screened with a review of their medical records.
Participants may have a medical history and physical exam.
Participants will have blood drawn using a needle. The blood will be used for genetic tests.
Participants will have saliva collected. They will spit into a small plastic container. Or their spit will be absorbed from their mouth using a small sponge. The saliva will be used for genetic tests.
Participants may have samples collected from their vagina. A small cotton swab will be used to gather the samples. This procedure is optional.
If participants have a surgery related to their condition, a small tissue sample will be taken. It will be stored for future research.
Participants may complete optional surveys. These surveys ask about their physical and emotional health. They can choose not to answer any of the questions.
Researchers will collect medical data from participants standard tests. Such tests may include blood and urine tests, X-rays, nuclear medicine scans, and other tests. Data will also be collected from standard treatments they may receive.
Study Description:
The overall purpose of Pediatric and Adolescent Gynecology (PAG) evaluations under this protocol is to gather information over time from a large group of patients with PAG conditions to help improve our understanding of these conditions. Our aim is to create a large database of PAG conditions in presentation and variety.
Objectives:
Primary Objective:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Family Members of PAG patients | Clinical evaluation of family members that would provide clinical information related to the diagnosis of a proband in future research. | ||
| PAG patient | Pediatric and adolescent patients with gynecologic conditions. |
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| Measure | Description | Time Frame |
|---|---|---|
| Recruit a diverse population of pediatric and adult subjects | Recruit a diverse population of pediatric and adult subjects with known or suspected PAG disorders in order to collect evaluate the underlying natural history data and specimen of typical and atypical presentations of PAG disorders. | Ongoing |
| Create a large database of PAG conditions | Create a large database of PAG conditions in presentation and variety. | Ongoing |
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INCLUSION CRITERIA FOR PAG PATIENTS:
INCLUSION CRITERIA FOR PAG PATIENTS OF FAMILY MEMBERS:
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
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Pediatric and adolescent patients with gynecologic conditions and their family members that would provide clinical information related to the diagnosis of a proband.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Veronica Gomez-Lobo, M.D. | Contact | (301) 435-7567 | veronica.gomez-lobo@nih.gov |
| Name | Affiliation | Role |
|---|---|---|
| Veronica Gomez-Lobo, M.D. | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| National Institutes of Health Clinical Center | Recruiting | Bethesda | Maryland | 20892 | United States |
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| Label | URL |
|---|---|
| NIH Clinical Center Detailed Web Page | View source |
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| ID | Term |
|---|---|
| D012734 | Disorders of Sex Development |
| D000013 | Congenital Abnormalities |
| ID | Term |
|---|---|
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
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