Cardiometabolic Profiles of Boys With Klinefelter Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

31 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-05-31

Study Completion Date

2017-12-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Klinefelter Syndrome 47,XXY Sex Chromosome Aneuploidy XXY Syndrome

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Testosterone Naive

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

No intervention

Intervention Type OTHER

Testosterone exposed

Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5.

+topical testosterone treatment for \>1 year

No intervention

Intervention Type OTHER

Interventions

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No intervention

Intervention Type OTHER

Eligibility Criteria

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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

Minimum Eligible Age

12 Years

Maximum Eligible Age

17 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No