Annals of Pediatric Endocrinology & Metabolism (Mar 2014)

Mosaic Turner syndrome associated with schizophrenia

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

DOI
https://doi.org/10.6065/apem.2014.19.1.42
Journal volume & issue
Vol. 19, no. 1
pp. 42 – 44

Abstract

Read online

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.

Keywords