NCT00999310

Brief Summary

The purpose of this study is to investigate the following:

  1. 1.Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity.
  2. 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
146

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Nov 2009

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 20, 2009

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 21, 2009

Completed
11 days until next milestone

Study Start

First participant enrolled

November 1, 2009

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2012

Completed
1.2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2013

Completed
Last Updated

June 2, 2015

Status Verified

September 1, 2012

Enrollment Period

2.4 years

First QC Date

October 20, 2009

Last Update Submit

May 31, 2015

Conditions

Klinefelter Syndrome

Keywords

Klinefelter syndromeNeuropsychologyNeuroradiologyGenetics

Study Arms (4)

Klinefelter syndrome

Control men

Control women

parents of Klinefelter groupe

Eligibility Criteria

Age18 Years - 60 Years
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64)
Sampling MethodNon-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.

You may qualify if:

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

You may not qualify if:

  • 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)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Medical Department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Nørrebrogade 44

Aarhus, 8000, Denmark

Location

Related Publications (3)

  • Viuff M, Skakkebaek A, Johannsen EB, Chang S, Pedersen SB, Lauritsen KM, Pedersen MGB, Trolle C, Just J, Gravholt CH. X chromosome dosage and the genetic impact across human tissues. Genome Med. 2023 Mar 28;15(1):21. doi: 10.1186/s13073-023-01169-4.

    PMID: 36978128DERIVED

  • Chang S, Skakkebaek A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Ostergaard JR, Gravholt CH. Anthropometry in Klinefelter syndrome--multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab. 2015 Mar;100(3):E508-17. doi: 10.1210/jc.2014-2834. Epub 2014 Dec 16.

    PMID: 25514102DERIVED

  • Skakkebaek A, Bojesen A, Kristensen MK, Cohen A, Hougaard DM, Hertz JM, Fedder J, Laurberg P, Wallentin M, Ostergaard JR, Pedersen AD, Gravholt CH. Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics. Andrology. 2014 Jul;2(4):632-40. doi: 10.1111/j.2047-2927.2014.00229.x. Epub 2014 May 28.

    PMID: 24865607DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood, serum, plasma

MeSH Terms

Conditions

Klinefelter Syndrome

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex DevelopmentDisorders of Sex DevelopmentUrogenital AbnormalitiesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesSex Chromosome DisordersChromosome DisordersCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornGonadal DisordersEndocrine System DiseasesHypogonadism

Study Officials

  • 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

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 20, 2009

First Posted

October 21, 2009

Study Start

November 1, 2009

Primary Completion

April 1, 2012

Study Completion

June 1, 2013

Last Updated

June 2, 2015

Record last verified: 2012-09

Locations

DK(1)