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

University of Aarhus

Status: Completed

Conditions: Osteoporosis; Klinefelter Syndrome; Diabetes; Metabolic Syndrome; Cardiovascular Disease

Study type: Observational

Funder types: Other

Identifiers

NCT00523835

20010155

Details and patient eligibility

About

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.

Sex: Male

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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)

Trial design

140 participants in 2 patient groups

KS

Description:

Patients with Klinefelter syndrome verified by chromosome analysis

Normal

Description:

Normal men Age matched to KS patients