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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| KS | Patients with Klinefelter syndrome verified by chromosome analysis | ||
| Normal | Normal men Age matched to KS patients |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| 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 |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital | Aarhus | 8000 | Denmark |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 16801584 | Result | 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. | |
| 24659579 | Derived |
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| ID | Term |
|---|---|
| D007713 | Klinefelter Syndrome |
| D003920 | Diabetes Mellitus |
| D010024 | Osteoporosis |
| D024821 | Metabolic Syndrome |
| D002318 | Cardiovascular Diseases |
| ID | Term |
|---|---|
| D058533 | Sex Chromosome Disorders of Sex Development |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| 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. |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D007006 | Hypogonadism |
| D044882 | Glucose Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D007333 | Insulin Resistance |
| D006946 | Hyperinsulinism |