International Journal of General Medicine (Mar 2022)
A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype
Abstract
Willem MA Verhoeven,1– 3 Jos IM Egger,3– 5 Sandra Mergler,6 Ton AA Meijer,7 Rolph Pfundt,4,8 Marjolein H Willemsen8 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands; 3Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 4Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; 5Stevig, Specialized and Forensic Care for People with Intellectual Disabilities, Dichterbij, Oostrum, The Netherlands; 6ASVZ, Centre for People with Intellectual Disabilities, Sliedrecht, The Netherlands; 7Department of Internal Medicine, Albert Schweitzer Hospital, Dordrecht, The Netherlands; 8Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The NetherlandsCorrespondence: Willem MA Verhoeven, Centre of Excellence for Neuropsychiatry, Stationsweg 46, Venray, 5803 AC, The Netherlands, Tel +31651156556, Fax +31478584765, Email [email protected]: Klinefelter syndrome is a chromosomal disorder in which one extra X chromosome is present (47,XXY). Several other numeric variants of this syndrome are described that comprise one or more additional sex chromosomes such as 48,XXXY, 48,XXYY and 49,XXXXY. These rare conditions are often associated with increased risk for congenital malformations, additional medical problems, and a more complex psychological phenotype. Since 1963, apart from two infants, only four adult patients with a XXXYY pentasomy have been published as case report. The present paper critically reviews the existing literature and provides detailed assessments of a 25-year-old male with intellectual disability and autism. For the first time, this very rare pentasomy is now recorded using all information about developmental history as well as findings from genetic, somatic, endocrinological and neuropsychological examination. It is concluded that children born with abnormalities of the external genitalia should always be evaluated for genetic abnormalities in order to avoid unwanted delay of appropriately designed multidisciplinary medical and psychological treatment.Keywords: 49, XXXYY pentasomy, Klinefelter syndrome, testosterone, autism, treatment design
