Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
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Purpose
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility. It is caused by the presence of extra X-chromosomes, the most common karyotype being 47,XXY. The phenotype is variable, but the most constant finding is small hyalinized testes, hypergonadotrophic hypogonadism, infertility, eunuchoid body proportion, increased height and learning disabilities. Klinefelter syndrome has been associated with increased prevalence of diabetes, osteoporosis and cardiovascular diseases but the pathogenesis is unknown. Accordingly the aim of the study was to investigate measures of body composition, insulin sensitivity, bone mineral density, echocardiography, as well as biochemical markers of endocrine, metabolic and bone function in KS and an age-matched control group.
| Condition |
|---|
|
Klinefelter Syndrome Diabetes Osteoporosis Metabolic Syndrome Cardiovascular Disease |
| Study Type: | Observational |
| Study Design: | Additional Descriptors: Convenience Sample Observational Model: Natural History Time Perspective: Cross-Sectional Time Perspective: Prospective |
| Estimated Enrollment: | 140 |
| Study Start Date: | April 2002 |
| Study Completion Date: | November 2004 |
| Groups/Cohorts |
|---|
|
Case: KS
Patients with Klinefelter syndrome verified by chromosome analysis
|
|
Control: Normal
Normal men Age matched to KS patients
|
Eligibility| Ages Eligible for Study: | 18 Years and older |
| Genders Eligible for Study: | Male |
| Accepts Healthy Volunteers: | Yes |
Inclusion Criteria:
- age above 18 years
- verified KS karyotype (KS patients)
Exclusion Criteria:
- untreated hypothyroidism or hyperthyroidism
- present or past malignant diseases
- clinical liver disease
- treatment with drugs knowing to interfere with glucose homeostasis, fat metabolism or bone modulation (e.g. glucocorticoids)
Contacts and Locations| Denmark | |
| Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital | |
| Aarhus, Denmark, 8000 | |
| Study Chair: | Jens S. Christiansen, Professor | Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Denmark |
| Principal Investigator: | Anders B Bojesen, MD, PhD | Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Denmark |
| Study Director: | Claus H Gravholt, MD, DMsc, PhD | Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Denmark |
More Information
Publications:
| ClinicalTrials.gov Identifier: | NCT00523835 History of Changes |
| Other Study ID Numbers: | 20010155 |
| Study First Received: | August 31, 2007 |
| Last Updated: | August 31, 2007 |
| Health Authority: | Denmark: The Danish National Committee on Biomedical Research Ethics |
Additional relevant MeSH terms:
|
Cardiovascular Diseases Klinefelter Syndrome Osteoporosis Metabolic Syndrome X Insulin Resistance 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 Bone Diseases, Metabolic Bone Diseases Musculoskeletal Diseases Hyperinsulinism Glucose Metabolism Disorders Metabolic Diseases |
ClinicalTrials.gov processed this record on June 18, 2013