28th National Clinical Education Symposium Presentation Abstracts

20 APRIL 2026, MONDAY
PP-19 Klinefelter Syndrome Associated with Autism Spectrum Disorder: A Forensic Case Report

PP-19 Klinefelter Syndrome Associated with Autism Spectrum Disorder: A Forensic Case Report

Buse Helimoglu1, Ayse Erguner Aral1

1. Department of Psychiatry, İzmir City Hospital, İzmir, Turkey


DOI: 10.5080/61upk.ozt512 Page 217
Klinefelter Syndrome Associated with Autism Spectrum Disorder: A Forensic Case Report OBJECTIVE: Klinefelter syndrome (47,XXY)(KS) is a chromosomal aneuploidy associated with physical, cognitive, neurodevelopmental and psychiatric features. The aim of this case report is to evaluate, from clinical, neurodevelopmental and forensic psychiatric perspectives, an individual with KS who has symptoms of autism spectrum disorder(ASD) and to emphasize the importance of genetic etiology in the differential diagnosis. Case A 20-year-old single male was admitted to the forensic psychiatry unit of İzmir City Hospital under Article 74 of the Turkish Criminal Procedure Code and Article 57/1 of the Turkish Penal Code(TPC). His background revealed deficits in social-emotional reciprocity, poorly integrated verbal-nonverbal communication, restricted and unusual interests, poor academic performance since childhood with no other complaint. Mental status examination showed deficient and impaired comminication, limited affect, apathy, poverty of thought content, reduced abstract thinking ability. The Wechsler Adult Intelligence Scale(WAIS) assessment indicated moderate intellectual disability. The patient obtained a high score on the Revised Autism Spectrum Quotient, indicating prominent autistic features. Physical examination revealed phenotypic characteristics consistent with KS, karyotype analysis confirmed as 47,XXY pattern. No psychotic symptoms were observed. At the end of the observation period, the case was evaluated under Article 32/1 of the TPC due to the offense history which is theft of women’s clothes with certain features and throwing them into the garbage in a repetitive, ritualistic manner. Written informed consent was obtained from the patient for this case presentation. Discussion This case highlights the importance of genetic evaluation in individuals who has symptoms of ASD particularly in the presence of striking phenotypic findings. Early recognition of neurodevelopmental symptoms of KS may enhance clinical awareness, support accurate diagnosis and follow-up, contribute to multidisciplinary assessment and draws attention to evaluation of forensic cases and criminal histories exhibiting characteristics of ASD. Keywords: atypical autism, autism spectrum disorder, behavioral disorder, Klinefelter syndrome.