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INSIGHTS is a registry research study that collects key information on medical history for girls and women with Turner syndrome and the clinical care they receive. This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. In addition to learning a lot about the current state of health for individuals with TS, INSIGHTS serves as an infrastructure to conduct future studies are meaningful to patients and their families.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| No intervention | Other | This study is an observational study without treatment intervention. |
| Measure | Description | Time Frame |
|---|---|---|
| Health conditions | Average number of chronic diagnoses per person | From study start until condition observed, up to 15 years |
| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of mental health diagnoses | Prevalence of mental health diagnoses is defined as the number of participants in the sample diagnosed with a mental health disorder by a clinician according to their medical record out of the total sample. This will be determined by a diagnosis of any of the following in a clinical encounter, problem list, and/or past medical history:
|
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Inclusion Criteria:
Exclusion Criteria:
a. Lack of a TS diagnosis on file
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The study population for this registry is patients diagnosed with Turner syndrome who are seen at a participating clinic.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Shanlee M Davis, MD, PhD | Contact | 720-777-6073 | shanlee.davis@childrenscolorado.org |
| Name | Affiliation | Role |
|---|---|---|
| Shanlee M Davis, MD, PhD | Children's Hospital Colorado | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Colorado | Recruiting | Aurora | Colorado | 80045 | United States |
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| ID | Term |
|---|---|
| D014424 | Turner Syndrome |
| ID | Term |
|---|---|
| D006059 | Gonadal Dysgenesis |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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If resources are available and optional consent is provided, a 5-10mL blood sample will be obtained in 1 gold top and 1 purple top (EDTA) tube and processed for storage of plasma, serum, and buffy coat. These specimens will be stored in a biobank with a barcode to link the sample with the patient for future studies involving the assessment of hormones, proteins, metabolites, DNA, RNA, and other studies. Phlebotomy will be combined with clinical phlebotomy whenever possible.
| From study start until condition observed, up to 15 years |
| Prevalence of premature ovarian insufficiency | Prevalence of premature ovarian insufficiency is defined as the number of participants in the sample with a diagnosis of premature ovarian insufficiency (or failure) in their medical record clinical encounter, problem list, and/or past medical history or laboratory results in their medical record consistent with this diagnosis (elevated FSH or undetectable AMH) out of the total sample. | From study start until condition observed, up to 15 years |
| Prevalence of hearing loss | Prevalence of hearing loss is defined as the number of participants in the sample formally diagnosed with a hearing loss in their medical record in a clinical encounter, problem list, and/or past medical history or an audiology report consistent with hearing impairment out of the total sample. | From study start until condition observed, up to 15 years |
| Cardiometabolic diagnoses - prevalence of obesity | Prevalence of obesity is defined as the number of participants in the sample with obesity in their medical record out of the total sample. Obesity in pediatric populations is determined using BMI-for-age and obesity in adult populations is determined using BMI. BMI is calculated as the weight in kilograms divided by the height in meters squared. Participants will be considered to have obesity if:
| From study start until condition observed, up to 15 years |
| Cardiometabolic diagnoses - prevalence of dyslipidemia | Prevalence of metabolic syndrome is defined as the number of participants in the sample with dyslipidemia in their medical record out of the total sample. Dyslipidemia will be defined as:
| From study start until condition observed, up to 15 years |
| Cardiometabolic diagnoses - prevalence of fatty liver disease | Prevalence of fatty liver disease is defined as the number of participants in the sample with a formal diagnosis of fatty liver disease in their medical record out of the total sample. Fatty liver disease diagnosis in the medical record in a clinical encounter, problem list, and/or past medical history may also present as:
| From study start until condition observed, up to 15 years |
| Cardiometabolic diagnoses - prevalence of hypertension | Prevalence of hypertension is defined as the number of participants in the sample with evidence of hypertension in their medical record out of the total sample. Evidence of hypertension includes:
| From study start until condition observed, up to 15 years |
| Children's National | Recruiting | Washington D.C. | District of Columbia | 20010 | United States |
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| Lurie Children's | Recruiting | Glenview | Illinois | 60026 | United States |
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| University of Kansas | Recruiting | Lawrence | Kansas | 66045 | United States |
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| UNC Hospitals Children's Specialty Clinic | Recruiting | Chapel Hill | North Carolina | 27514 | United States |
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| Cincinnati Children's Hospital Medical Center | Recruiting | Cincinnati | Ohio | 45229 | United States |
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| Nationwide Childern's Hospital | Recruiting | Columbus | Ohio | 43205 | United States |
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| Children's Hospital of Philadelphia | Recruiting | Philadelphia | Pennsylvania | 19104 | United States |
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| The University of Texas Health Science Center at Houston | Recruiting | Houston | Texas | 77030 | United States |
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| Seattle Children's | Recruiting | Seattle | Washington | 98105 | United States |
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| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D058533 | Sex Chromosome Disorders of Sex Development |
| D052801 | Male Urogenital Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |