Cardiometabolic Profiles of Boys With Klinefelter Syndrome

University of Colorado Denver (CU Denver)

Status: Completed

Conditions: Klinefelter Syndrome; 47,XXY; Sex Chromosome Aneuploidy; XXY Syndrome

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT02723305

16-0248

UL1TR001082 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 31 patients

Sex: Male

Ages: 12 to 17 years old

Volunteers: No Healthy Volunteers

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

Trial design

31 participants in 2 patient groups

Testosterone Naive

Description:

Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. No exogenous testosterone exposure in the past 5 years

Treatment:

Other: No intervention

Testosterone exposed

Description:

Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. +topical testosterone treatment for \>1 year

Treatment:

Other: No intervention