Cardiometabolic Profiles of Boys With Klinefelter Syndrome

Klinefelter Syndrome Clinical Trial

Official title:

Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02723305
• Other study ID #: 16-0248
• Secondary ID: UL1TR001082
• Status: Completed
• Start date: May 2016
• Est. completion date: December 2017

Study information

• Verified date: March 2022
• Source: University of Colorado, Denver
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.

Description:

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 31
• Est. completion date: December 2017
• Est. primary completion date: December 2017
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 12 Years to 17 Years

Eligibility

Inclusion Criteria:

• Male, 47,XXY karyotype (non-mosaic)

• Age 12-17 years

• Tanner stage 3-5 pubic hair

• T naïve group only: No exogenous androgen exposure within the past 5 years

• T exposed group only: currently on topical testosterone, with duration of treatment between 1-2 years.

Exclusion Criteria:

• Cognitive, psychiatric, or physical impairment resulting in inability to tolerate the study procedures

• MRI incompatible metal

• Diagnosis of type 1 or type 2 diabetes

• Hypertension greater than 140/90 mm/Hg at rest (would make exercise studies unsafe)

• Weight > 300 lbs (limit for DEXA)

• Testosterone treatment for <1 year or >2 years

Related Conditions & MeSH terms

• 47,XXY
• Aneuploidy
• Klinefelter Syndrome
• Sex Chromosome Aneuploidy
• Syndrome
• XXY Syndrome

Intervention

Other:
• No intervention

Locations

Country	Name	City	State
United States	Children's Hospital Colorado	Aurora	Colorado

Sponsors (1)

Lead Sponsor	Collaborator
University of Colorado, Denver

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	VO2 peak	The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer	baseline
Secondary	Body composition	Percent body fat by dual-energy x-ray absorptiometry	baseline
Secondary	Liver fat	Intrahepatic fat by abdominal magnetic resonance imaging	baseline
Secondary	Muscle mitochondrial metabolism	Rate of mitochondrial phosphorylation by 31-phosphorus magnetic resonance spectroscopy of the calf muscles	baseline
Secondary	Insulin sensitivity	oral disposition index with Glucola	baseline