Suppr超能文献

与精神分裂症相关的嵌合型特纳综合征。

Mosaic Turner syndrome associated with schizophrenia.

作者信息

Jung Sook Young, Park Joo Won, Kim Dong Hyun, Jun Yong Hoon, Lee Jeong Seop, Lee Ji Eun

机构信息

Department of Pediatrics, Inha University Hospital, Inha University School of Medicine, Incheon, Korea.

Inha University School of Medicine, Incheon, Korea.

出版信息

Ann Pediatr Endocrinol Metab. 2014 Mar;19(1):42-4. doi: 10.6065/apem.2014.19.1.42. Epub 2014 Mar 31.

Abstract

Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

摘要

特纳综合征是一种性染色体疾病,在每2500例女性出生中就有1例发生。全球范围内有零星的关于特纳综合征合并精神分裂症的病例报告。大多数特纳女性为45,X单体型,而特纳综合征与精神分裂症的大多数共病具有嵌合核型(45,X/46,XX)。我们报告一例21岁患有特纳综合征、嵌合核型(45,X/46,XX)的女性病例,该患者表现出智力发育迟缓、甲状腺功能减退和精神分裂症。Xq13区域内的HOPA基因与智力发育迟缓、甲状腺功能减退和精神分裂症有关。我们的病例可能是一个潜在线索,支持X染色体上的基因参与精神分裂症发病的假说。需要进一步开展包括共病病例报告在内的研究,以查明患有特纳综合征患者精神分裂症的病因。

相似文献

1
Mosaic Turner syndrome associated with schizophrenia.与精神分裂症相关的嵌合型特纳综合征。
Ann Pediatr Endocrinol Metab. 2014 Mar;19(1):42-4. doi: 10.6065/apem.2014.19.1.42. Epub 2014 Mar 31.
3
Investigation of Turner syndrome in schizophrenia.精神分裂症中特纳综合征的调查。
Am J Med Genet. 2000 Jun 12;96(3):373-8. doi: 10.1002/1096-8628(20000612)96:3<373::aid-ajmg26>3.0.co;2-z.

引用本文的文献

1
Turner's syndrome with schizophrenia: A case report.特纳综合征合并精神分裂症:一例报告
Ind Psychiatry J. 2025 Jan-Apr;34(1):144-145. doi: 10.4103/ipj.ipj_34_23. Epub 2023 Aug 11.
4
A computational lens on menopause-associated psychosis.从计算角度看更年期相关精神病。
Front Psychiatry. 2022 Aug 3;13:906796. doi: 10.3389/fpsyt.2022.906796. eCollection 2022.
6
Sex chromosome abnormalities and psychiatric diseases.性染色体异常与精神疾病。
Oncotarget. 2017 Jan 17;8(3):3969-3979. doi: 10.18632/oncotarget.13962.

本文引用的文献

8
Investigation of Turner syndrome in schizophrenia.精神分裂症中特纳综合征的调查。
Am J Med Genet. 2000 Jun 12;96(3):373-8. doi: 10.1002/1096-8628(20000612)96:3<373::aid-ajmg26>3.0.co;2-z.
10
Psychological aspects of Turner syndrome.特纳综合征的心理方面
J Psychosom Obstet Gynaecol. 1998 Mar;19(1):1-18. doi: 10.3109/01674829809044216.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验