PDF(Pubmed)
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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：Klinefelter综合征（47，XXY）是最常见的性染色体非整倍体。除了男性促性腺激素性性腺功能减退，广泛的神经发育障碍，焦虑和情感症状在很大一部分病例中被报道。
方法：我们记录了一例罕见的43岁男性，诊断为Klinefelter综合征和GillesdelaTourette综合征。自青春期以来，他表现出多种运动和声乐抽搐，以及焦虑和情感症状是他的主要抽搐加剧因素。抽动严重程度评定为标记（耶鲁全球抽动严重程度量表得分为78/100），并制定了治疗抽动和精神病合并症的建议。
结论：以前仅在三个病例中记录了Klinefelter综合征背景下的神经发育症。GillesdelaTourette综合征在男性中的发病率是女性的3-4倍，其病因包括多种遗传成分（遗传异质性）。我们的病例报告扩大了在Klinefelter综合征中观察到的神经发育障碍的范围，并有助于对X染色体在抽动障碍的病理生理学中的作用进行遗传研究。
方法：我们记录了一例罕见的43岁男性，诊断为Klinefelter综合征和GillesdelaTourette综合征。自青春期以来，他表现出多种运动和声乐抽搐，以及焦虑和情感症状是他的主要抽搐加剧因素。抽动严重程度评定为标记（耶鲁全球抽动严重程度量表得分为78/100），并制定了治疗抽动和精神病合并症的建议。
结论：以前仅在三个病例中记录了Klinefelter综合征背景下的神经发育症。GillesdelaTourette综合征在男性中的发病率是女性的3-4倍，其病因包括多种遗传成分（遗传异质性）。我们的病例报告扩大了在Klinefelter综合征中观察到的神经发育障碍的范围，并有助于对X染色体在抽动障碍的病理生理学中的作用进行遗传研究。
