An observational study in Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract and Reproductive Endocrine Conditions in Puberty, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 1 site in United States. Open to participants aged 1 Day to 100 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-05.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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.
This study does not involve administration of investigational drugs, devices, or behavioral interventions. Participants receive standard clinical care independent of research participation.
Objectives:
Primary Objective:
32 studies on the registry are indexed under Disorders of Sex Development; 7 are open to participants now.
This study's planned enrollment of 11,000 is above the median of 84 across 17 observational studies indexed under Disorders of Sex Development.
Browse Disorders of Sex Development studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
Pediatric and adolescent patients with gynecologic conditions and their family members that would provide clinical information related to the diagnosis of a proband.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Provision of signed and dated form.
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:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinical evaluation of family members that would provide clinical information related to the diagnosis of a proband in future research.
Pediatric and adolescent patients with gynecologic conditions.
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.
Time frame: Ongoing
Create a large database of PAG conditions
Create a large database of PAG conditions in presentation and variety.
Time frame: Ongoing
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Disorders of Sex Development →
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →