Ann Pediatr Endocrinol Metab.  2014 Mar;19(1):42-44. 10.6065/apem.2014.19.1.42.

Mosaic Turner syndrome associated with schizophrenia

Affiliations
  • 1Department of Pediatrics, Inha University Hospital, Inha University School of Medicine, Incheon, Korea. anicca@inha.ac.kr
  • 2Inha University School of Medicine, Incheon, Korea.
  • 3Department of Psychiatry, Inha University Hospital, Inha University School of Medicine, Incheon, Korea.

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.

Keyword

Turner syndrome; Schizophrenia; X chromosome; Mosaicism
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