Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome

Abstract

BACKGROUND: Klinefelter syndrome (47, XXY) is the most common sex chromosome aneuploidy. In addition to male hypergonadotropic hypogonadism, a wide range of neurodevelopmental disorders, anxiety and affective symptoms have been reported in a substantial proportion of cases. CASE DESCRIPTION: We document the rare case of a 43-year-old man diagnosed with Klinefelter syndrome and co-morbid Gilles de la Tourette syndrome. He presented with multiple motor and vocal tics since adolescence, as well as anxiety and affective symptoms as his main tic-exacerbating factors. Tic severity was rated as marked (Yale Global Tic Severity Scale score of 78/100), and recommendations for the treatment of both tics and psychiatric co-morbidities were formulated. DISCUSSION: Neurodevelopmental tics in the context of Klinefelter syndrome have been previously documented in three cases only. Gilles de la Tourette syndrome is 3-4 times more common in males than females and its etiological factors include multiple genetic components (genetic heterogeneity). Our case report widens the spectrum of neurodevelopmental disorders observed in the context of Klinefelter syndrome and contributes to genetic research on the role of the X chromosome in the pathophysiology of tic disorders.

Publication DOI: https://doi.org/10.1007/s10072-024-07573-x
Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences > Aston Institute of Health & Neurodevelopment (AIHN)
Additional Information: Copyright © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License
Uncontrolled Keywords: Humans,Klinefelter Syndrome/complications,Tourette Syndrome/complications,Male,Adult,Comorbidity,Dermatology,Clinical Neurology,Psychiatry and Mental health
Publication ISSN: 1590-3478
Last Modified: 07 Oct 2024 07:59
Date Deposited: 26 Jul 2024 15:54
Full Text Link:
Related URLs: http://www.scop ... tnerID=8YFLogxK (Scopus URL)
https://link.sp ... 072-024-07573-x (Publisher URL)
PURE Output Type: Article
Published Date: 2024-08-01
Published Online Date: 2024-05-07
Accepted Date: 2024-04-29
Authors: Cavanna, Andrea E
Paini, Giulia
Purpura, Giulia
Riva, Anna
Nacinovich, Renata
Seri, Stefano (ORCID Profile 0000-0002-9247-8102)

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