Department of Psychology and Behavioural Sciences

John Rosendahl Østergaard

Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • Anne Skakkebæk Jensen
  • A Bojesen
  • M. K. Kristensen, Department of Mental Health, Odense University Clinic, Denmark
  • A Cohen, Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry, Immunology and Genetics, Statens Serum Institute, Copenhagen, Denmark
  • D M Hougaard, Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, Denmark
  • J M Hertz, Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Denmark
  • J Fedder, Fertility Clinic, Department of Gynecology and Obstetrics, Odense University Hospital
  • ,
  • P Laurberg, Aalborg University, Denmark
  • Mikkel Wallentin
  • J R Ostergaard
  • Anders Degn Pedersen
  • Claus Højbjerg Gravholt

Klinefelter syndrome (KS, 47,XXY) is associated with increased psychiatric morbidity and cognitive disabilities, although the neuropsychological phenotype shows great variability. Androgen receptor polymorphism (CAG repeat length), skewed X-chromosome inactivation and parent-of-origin of the extra X-chromosome have been suggested to influence cognitive function and psychological traits. These issues have not been clarified for KS patients. We studied X-chromosome inactivation pattern, CAG repeat length and parent-of-origin in relation to educational and cohabitation status, personality and autism traits, psychological distress, cognitive function and brain volumes in 73 KS patients and 73 controls. Grey matter (GM) volume of left insula was significantly decreased in KS patients with skewed X-inactivation (z = 5.78) and we observed a borderline significant difference in global brain matter volume where KS patients with skewed X-chromosome inactivation tended to have smaller brains. Skewed X-inactivation, CAG repeat length and parent-of-origin were not correlated with educational and marital status, personality traits, autism traits, and psychological distress, prevalence of depression and anxiety or cognitive function. Interestingly our results regarding brain volumes indicate that X-inactivation has an influence on GM volume in left insula and might also be related to global GM volume, indicating a possible effect of X-linked genes on the development of GM volume in KS patient. Skewed X-inactivation, CAG repeat length and parent-of-origin have no impact on the neuropsychological phenotype in KS ( (Clinical trial NCT00999310)).

Original languageEnglish
Pages (from-to)632-640
Number of pages4
Publication statusPublished - 28 May 2014

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