Annals of Pediatric Endocrinology & Metabolism  2014;19(1):42-44

doi:10.6065/apem.2014.19.1.42

Mosaic Turner syndrome associated with schizophrenia.

Sook Young JUNG 1 ; Joo Won PARK ; Dong Hyun KIM ; Yong Hoon JUN ; Jeong Seop LEE ; Ji Eun LEE

Affiliations

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Keywords

Turner syndrome; Schizophrenia; X chromosome; Mosaicism

Country

Republic of Korea

Language

English

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.