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Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome

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ClinicalTrials.gov Identifier: NCT00999310
Recruitment Status : Completed
First Posted : October 21, 2009
Last Update Posted : June 2, 2015
Sponsor:
Collaborator:
Information provided by (Responsible Party):

Study Description
Brief Summary:

The purpose of this study is to investigate the following:

  1. Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity.
  2. The influence of genetic factors and testosterone treatment on the neuropsychological phenotype, total and regional brain volumes and brain activity in men with Klinefelter syndrome.

Condition or disease
Klinefelter Syndrome

Detailed Description:

Klinefelter syndrome (KS) is the most common sex-chromosome disorder in men with a prevalence of 1 in 660 men. Men with the syndrome have an additional X-chromosome. The syndrome is associated with cognitive and behavioral dysfunction and also with hypogonadism. Magnetic resonance imaging have pointed to different volumetric alterations in several brain structures. Several genetic factors involving the X-chromosome have been suggested to influence the neuropsychological phenotype in men with KS.

The aim of this study is to investigate the following: 1.Whether KS is associated with altered total and regional brain volumes and altered brain activity. 2.Whether genetic factors influence the neuropsychological phenotype, total and regional brain volumes, and brain activity in men with KS. 3.Whether testosterone treatment improves cognitive skills and change brain activity in men with KS.

Participants are divided in 5 groups: 1. 50 men with KS who receive testosterone treatment. 2. 50 men KS who do not receive testosterone treatment. 3. 100 age-matched control men.4. 50 age-matched control women are included as a control group for X-chromosome inactivation pattern. 5. Parents of KS subjects in group 1 and 2 are included to determine the parental origin of the supernumerary X-chromosome. Methods include a 3-hour battery of standardized neuropsychological tests to cover a broad range of cognitive domains and to assess major domains of personality. We use magnetic resonance imaging to measure total and regional brain volumes and functional magnetic resonance imaging to measure brain activity while subjects are performing a attention-demanding cognitive task. The genetic testing includes the parental origin of the supernumerary X-chromosome, the pattern of X-chromosome inactivation, androgen receptor (AR) CAGn repeat length, and gene expression profile of brain-expressed genes.


Study Design

Study Type : Observational
Actual Enrollment : 146 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome
Study Start Date : November 2009
Primary Completion Date : April 2012
Study Completion Date : June 2013

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Group/Cohort
Klinefelter syndrome
Control men
Control women
parents of Klinefelter groupe


Outcome Measures

Biospecimen Retention:   Samples With DNA
Whole blood, serum, plasma

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients with Klinefelter syndrome are recruited from endocrine and fertility clinics.

The control groups are recruited by advertising for healthy volunteers at the University of Aarhus and at the Blood Bank at the Aarhus University Hospital.

Criteria

Inclusion Criteria:

  • age between 18 and 60 years
  • verified KS karyotype (KS patients)

Exclusion Criteria:

  • present or past neurological diseases
  • present or past head trauma
  • contraindication to perform MR scans(Claustrophobia,Magnetic or electric foreign bodies - including cardiac pacemakers, magnetic cerebrovascular clips and electric non-removable appliances dosing medicine)
  • extreme adiposity (BMI > 35 kg/m2)
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00999310


Locations
Denmark
Medical Department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Nørrebrogade 44
Aarhus, Denmark, 8000
Sponsors and Collaborators
University of Aarhus
Aarhus University Hospital
Investigators
Principal Investigator: Claus H Gravholt, MD, DMSCI Medical Department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus, Denmark
Principal Investigator: Anne S Jensen, MD University of Aarhus
More Information

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: University of Aarhus
ClinicalTrials.gov Identifier: NCT00999310     History of Changes
Other Study ID Numbers: M-20080238
First Posted: October 21, 2009    Key Record Dates
Last Update Posted: June 2, 2015
Last Verified: September 2012

Keywords provided by University of Aarhus:
Klinefelter syndrome
Neuropsychology
Neuroradiology
Genetics

Additional relevant MeSH terms:
Klinefelter Syndrome
Syndrome
Disease
Pathologic Processes
Sex Chromosome Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Sex Chromosome Disorders
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Gonadal Disorders
Endocrine System Diseases
Hypogonadism