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

NCT00523835 | Completed

• 1 other identifier: 20010155
• Study Type: observational
• Target: 140
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Study Arms (2)

KS

Patients with Klinefelter syndrome verified by chromosome analysis

Normal

Normal men Age matched to KS patients

Eligibility Criteria

• Age: 18 Years+
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• age above 18 years
• verified KS karyotype (KS patients)

You may not qualify if:

• 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 & Collaborators

• University of Aarhus: lead

Study Sites (1)

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

Aarhus, 8000, Denmark

Location

Related Publications (2)

• Bojesen A, Kristensen K, Birkebaek NH, Fedder J, Mosekilde L, Bennett P, Laurberg P, Frystyk J, Flyvbjerg A, Christiansen JS, Gravholt CH. The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care. 2006 Jul;29(7):1591-8. doi: 10.2337/dc06-0145.

  PMID: 16801584 RESULT

• Overvad S, Bay K, Bojesen A, Gravholt CH. Low INSL3 in Klinefelter syndrome is related to osteocalcin, testosterone treatment and body composition, as well as measures of the hypothalamic-pituitary-gonadal axis. Andrology. 2014 May;2(3):421-7. doi: 10.1111/j.2047-2927.2014.00204.x. Epub 2014 Mar 21.

  PMID: 24659579 DERIVED

MeSH Terms

Conditions

Klinefelter Syndrome; Diabetes Mellitus; Osteoporosis; Metabolic Syndrome; Cardiovascular Diseases

Condition Hierarchy (Ancestors)

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

Study Officials

• Jens S. Christiansen, Professor

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

  STUDY CHAIR

• Anders B Bojesen, MD, PhD

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

  PRINCIPAL INVESTIGATOR

• Claus H Gravholt, MD, DMsc, PhD

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

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: NATURAL HISTORY
• Time Perspective: OTHER
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: August 31, 2007
• First Posted: September 3, 2007
• Study Start: April 1, 2002
• Study Completion: November 1, 2004
• Last Updated: September 3, 2007

Record last verified: 2007-08

Locations

DK (1)