Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome

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.

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Key information

Conditions

Klinefelter Syndrome Bone Diseases Bone Diseases, Metabolic Cardiovascular Disease Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Diabetes Diabetes Mellitus Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Glucose Metabolism Disorders Gonadal Disorders Hyperinsulinism Hypogonadism Insulin Resistance Male Urogenital Diseases Metabolic Diseases Metabolic Syndrome Musculoskeletal Diseases Nutritional and Metabolic Diseases Osteoporosis Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Urogenital Abnormalities Urogenital Diseases

Age range

18 year and older

Sex eligibility

Male

Study type

Observational

Primary location

Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital

Aarhus, 8000, Denmark

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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)

Sponsors and collaborators

Lead sponsor

University of Aarhus

Other

Registry information

Important dates

Study start: 2002
Study completion: 2004
First posted: Sep 3, 2007
Registry last updated: Sep 3, 2007

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed