Clinical trial NCT00523835: Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Klinefelter Syndrome
Diabetes
Osteoporosis
Metabolic Syndrome
Cardiovascular Disease
Lead sponsor: University of Aarhus
Sponsor class: OTHER
First posted: 2007-09-03
Enrollment: 140
Sex: MALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: NATURAL_HISTORY
Time perspective: OTHER

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.


Eligibility criteria: 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)

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Aarhus
country: Denmark
facility: Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital
Study officials:
affiliation: Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Denmark
name: Jens S. Christiansen, Professor
role: STUDY_CHAIR
affiliation: Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Denmark
name: Anders B Bojesen, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Medical department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Denmark
name: Claus H Gravholt, MD, DMsc, PhD
role: STUDY_DIRECTOR
References:
citation: 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.
citation: 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.