The Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Transl Psychiatry. 2024 Sep 4;14(1):355. doi: 10.1038/s41398-024-02937-5.
Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering the occurrence of psychiatric conditions are sparse within TS. Several case reports describe concomitant TS and neuropsychiatric abnormalities that may represent a pathogenetic link to genetics, as well as feature correlates of TS. The aim of this study was to determine the presence, and the frequency of psychiatric diagnosis in women with TS in a Swedish cohort followed during 25 years' time. Statistics from the entire female population in Sweden of corresponding age was used as reference. Data were retrieved from clinical examinations and validated from the National Board of Health and Welfare registries for women with TS (n = 487), aged 16 to 84 years, with respect to mental health disorders. The most common diagnoses in TS were mood and anxiety disorders. There was no increase in psychiatric diagnosis within the group with time, nor correlation to specific karyotype or somatic comorbidity as congenital heart disease and hypothyroidism, hormonal treatment, or childbirth. In addition, the frequency of psychiatric diagnosis in TS was lower than in the population-based data. Further investigations are needed in the view of the fact that women with Turner syndrome should not be burdened with more severe diagnoses.
特纳综合征(TS)是一种遗传疾病,其特征是部分或完全单体 X。已经表明,TS 患者的预期寿命缩短,这取决于主动脉夹层和缺血性心脏病的风险增加。在 TS 中,涵盖精神疾病发生情况的研究很少。有几项病例报告描述了同时存在 TS 和神经精神异常,这可能代表了与遗传学的发病机制联系,以及 TS 的特征相关性。本研究的目的是在一个瑞典队列中确定 25 年随访期间患有 TS 的女性的存在情况和精神科诊断的频率。将瑞典相应年龄的整个女性人群的统计数据用作参考。从临床检查中检索数据,并从国家卫生福利委员会登记处对患有 TS(n=487)的女性的心理健康障碍进行验证,年龄在 16 至 84 岁之间。TS 中最常见的诊断是情绪和焦虑障碍。该组中随着时间的推移,精神科诊断没有增加,也没有与特定的核型或躯体合并症相关,如先天性心脏病和甲状腺功能减退症、激素治疗或分娩。此外,TS 中的精神科诊断频率低于基于人群的数据。鉴于特纳综合征患者不应承受更严重的诊断,需要进一步调查。