Inspiring New Science In Guiding Healthcare in Turner Syndrome Registry

Study Overview
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Brief Summary
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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.

Official Title
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INSIGHTS Registry - Inspiring New Science In Guiding Healthcare in Turner Syndrome

Conditions
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Turner Syndrome

Intervention / Treatment
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* Other: No intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Individuals with TS and TS variants as defined by the TS Clinical Practice Guideline definition (karyotype consistent with TS, phenotypic female, clinical feature(s) of TS) Informed consent/assent as appropriate Exclusion Criteria: a. Lack of a TS diagnosis on file
Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: No intervention|This study is an observational study without treatment intervention.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Health conditions | Average number of chronic diagnoses per person | From study start until condition observed, up to 15 years | 

Secondary Outcome Measures

| Outcome Measure | 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: Depression Anxiety Mood disorder NOS Psychotic disorder Attention-deficit/hyperactivity disorder (ADHD) Autistic disorder | 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: There is a diagnosis of obesity in the medical record in a clinical encounter, problem list, and/or past medical history For children 17 years and younger: there is an available growth chart/height/weight/other data necessary to calculate the BMI-for-age and the BMI-for-age is at or above the 95th percentile For adults 18 years and older: there is a BMI at or above 30 kg/m2 or the data necessary to calculate BMI and it is at or above 30 kg/m2 | 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: Diagnosis of dyslipidemia, hypertriglyceridemia, hypercholesterolemia in a clinical encounter, problem list, and/or past medical history Laboratory evidence of elevated total cholesterol, LDL, triglycerides, and/or low HDL for sex and age | 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: Non-alcoholic fatty liver disease (NAFLD) Hepatic steatosis Simple fatty liver disease Non-alcoholic steatohepatitis | 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: Formal diagnosis of hypertension in a clinical encounter, problem list, and/or past medical history For children under 13 years old: a blood pressure reading at or above the 95th percentile for age, height, and sex For children between 13 and 17 years old: a blood pressure reading at or above 130/80 mmHg For adults 18 years or older: a blood pressure reading at or above 140/90 mmHg | From study start until condition observed, up to 15 years |