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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 : January 30, 2019
Sponsor:
Information provided by (Responsible Party):
University of Colorado, Denver

Brief 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.

Condition or disease Intervention/treatment
Klinefelter Syndrome 47,XXY Sex Chromosome Aneuploidy XXY Syndrome Other: No intervention

Detailed 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.


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Study Type : Observational
Actual Enrollment : 31 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
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 2019

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
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
Other: No intervention
Testosterone exposed

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

+topical testosterone treatment for >1 year

Other: No intervention



Primary Outcome Measures :
  1. VO2 peak [ Time Frame: baseline ]
    The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer


Secondary Outcome Measures :
  1. Body composition [ Time Frame: baseline ]
    Percent body fat by dual-energy x-ray absorptiometry

  2. Liver fat [ Time Frame: baseline ]
    Intrahepatic fat by abdominal magnetic resonance imaging

  3. Muscle mitochondrial metabolism [ Time Frame: baseline ]
    Rate of mitochondrial phosphorylation by 31-phosphorus magnetic resonance spectroscopy of the calf muscles

  4. Insulin sensitivity [ Time Frame: baseline ]
    oral disposition index with Glucola


Biospecimen Retention:   Samples Without DNA
Plasma


Information from the National Library of Medicine

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Ages Eligible for Study:   12 Years to 17 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The study will enroll 10 youth with 47,XXY who will be subdivided into 2 groups:

  1. Testosterone naïve (no exogenous testosterone within the past 5 years)
  2. Testosterone exposed (topical testosterone treatment for at least 1 year but no more than 2 years) Most subjects will be recruited at the completion of a monitored, double-blind randomized controlled trial ongoing at our institution. Additional subjects may be recruited to meet enrollment goals.
Criteria

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

Information from the National Library of Medicine

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


Locations
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United States, Colorado
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Sponsors and Collaborators
University of Colorado, Denver
Investigators
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Principal Investigator: Shanlee M Davis, MD University of Colorado/Children's Hospital Colorado

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Responsible Party: University of Colorado, Denver
ClinicalTrials.gov Identifier: NCT02723305     History of Changes
Other Study ID Numbers: 16-0248
UL1TR001082 ( U.S. NIH Grant/Contract )
First Posted: March 30, 2016    Key Record Dates
Last Update Posted: January 30, 2019
Last Verified: January 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by University of Colorado, Denver:
Klinefelter syndrome
XXY
Sex chromosome aneuploidy
sex chromosome variation
hypogonadism
cardiometabolic
body composition
exercise capacity

Additional relevant MeSH terms:
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Klinefelter Syndrome
Syndrome
Aneuploidy
Disease
Pathologic Processes
Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Hypogonadism
Methyltestosterone
Testosterone
Testosterone undecanoate
Testosterone enanthate
Testosterone 17 beta-cypionate
Androgens
Hormones
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs
Antineoplastic Agents, Hormonal
Antineoplastic Agents
Anabolic Agents