Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome

University of Colorado Denver (CU Denver)

Status: Completed

Conditions: Turner Syndrome Mosaicism, 45, X/46, XX or XY; Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq); Turner Syndrome; Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT03181230

17-0142

UL1TR001082 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight gain, heart disease and liver disease, and how this impacts day to day life.

Enrollment: 21 patients

Sex: Female

Ages: 12 to 21 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Female
• Age 12-21 years
• 45,XO karyotype in >50% of cells tested with a diagnosis of Turner syndrome (TS)
• Tanner stage 2-5 for breast development

Exclusion criteria

• Growth hormone treatment within the past 3 months
• Diagnosis of type 1 or type 2 diabetes
• Untreated hypertension with blood pressure > 99%ile for sex, age and height or >140/90
• Weight > 300 lbs
• Height < 54"
• Aortic sinus of Valsalva or ascending aorta z-score > 2
• Other cognitive, psychiatric, or physical impairment resulting in inability to tolerate the study procedures, including vigorous exercise
• Pregnancy

Trial design

21 participants in 2 patient groups

Adolescents

Description:

Adolescents and young adults with Turner syndrome will undergo studies of cardiometabolism, fitness, quality of life questionnaires, and a brief interview.

Treatment:

Other: No intervention

Parents

Description:

One parent of a participant will complete parent-report quality of life questionnaires and a brief interview.

Treatment:

Other: No intervention