Jung Sook Young, Park Joo Won, Kim Dong Hyun, Jun Yong Hoon, Lee Jeong Seop, Lee Ji Eun
Department of Pediatrics, Inha University Hospital, Inha University School of Medicine, Incheon, Korea.
Inha University School of Medicine, Incheon, Korea.
Ann Pediatr Endocrinol Metab. 2014 Mar;19(1):42-4. doi: 10.6065/apem.2014.19.1.42. Epub 2014 Mar 31.
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.
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。