Cardiometabolic Profiles of Boys With Klinefelter Syndrome
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|ClinicalTrials.gov Identifier: NCT02723305|
Recruitment Status : Active, not recruiting
First Posted : March 30, 2016
Last Update Posted : April 26, 2021
|Condition or disease||Intervention/treatment|
|Klinefelter Syndrome 47,XXY Sex Chromosome Aneuploidy XXY Syndrome||Other: No intervention|
Klinefelter syndrome (KS) is the most common chromosomal abnormality in males and is associated with primary gonadal failure in adolescence and a high morbidity and mortality from cardiovascular-related diseases (CVD) in adulthood. Recent studies in children and adolescent boys with KS have found a high prevalence of CVD risk markers, however the underlying mechanisms have not been explored. Our central hypothesis is that pubertal boys with KS have relative testosterone deficiency resulting in abnormal energy metabolism that predisposes them to later CVD, and that exogenous testosterone will modify these abnormalities.
In this study, investigators will measure markers of cardiometabolic risk in pubertal boys with KS.
|Study Type :||Observational|
|Actual Enrollment :||31 participants|
|Official Title:||Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment|
|Study Start Date :||May 2016|
|Actual Primary Completion Date :||December 2017|
|Estimated Study Completion Date :||December 2021|
Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. No exogenous testosterone exposure in the past 5 years
Other: No intervention
Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5.
+topical testosterone treatment for >1 year
Other: No intervention
- VO2 peak [ Time Frame: baseline ]The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer
- Body composition [ Time Frame: baseline ]Percent body fat by dual-energy x-ray absorptiometry
- Liver fat [ Time Frame: baseline ]Intrahepatic fat by abdominal magnetic resonance imaging
- Muscle mitochondrial metabolism [ Time Frame: baseline ]Rate of mitochondrial phosphorylation by 31-phosphorus magnetic resonance spectroscopy of the calf muscles
- Insulin sensitivity [ Time Frame: baseline ]oral disposition index with Glucola
Biospecimen Retention: Samples Without DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02723305
|United States, Colorado|
|Children's Hospital Colorado|
|Aurora, Colorado, United States, 80045|
|Principal Investigator:||Shanlee M Davis, MD||University of Colorado/Children's Hospital Colorado|