BMJ Case Reports 2011; doi:10.1136/bcr.05.2011.4279
  • Reminder of important clinical lesson

Schizotypy: key feature of Klinefelter’s syndrome?

  1. Jos I M Egger1,3,4
  1. 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands
  2. 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, Netherlands
  3. 3Donders Institute for Brain, Cognition and Behaviour, Centre for Cognition, Radboud University Nijmegen, Nijmegen, Netherlands
  4. 4Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, Netherlands
  1. Correspondence to Professor Willem M.A. Verhoeven, wverhoeven{at}


Klinefelter’s syndrome (KS; karyotype 47,XXY) is associated with specific neurocognitive impairments, especially delayed language development and impaired socioemotional evolution. There is an increased risk for psychiatric disturbances, particularly schizophrenia and affective spectrum disorders.

A 51-year-old monozygotic male twin with KS is described of whom one was referred for long-lasting paranoid psychotic symptoms. Both were treated with testosterone and had an average level of intelligence. Detailed psychiatric and neuropsychological assessment in the referred patient demonstrated quasi-psychotic symptoms with illusions, delusion-like ideas, paranoid ideation, magical thinking, circumstantial speech and thinking and eccentric behaviours. In addition, attentional deficits and executive dysfunctions could be demonstrated. A diagnosis of schizotypal personality disorder was made. A less pronounced identical clinical picture was found in his brother. The psychopathological phenotype of KS is characterised by a schizotypal personality which originates from its specific cognitive defects and that, with increasing age, may develop into a schizophrenia-like psychosis.


  • Competing interests None.

  • Patient consent Obtained.

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog

Navigate This Article