Mosaic Turner syndrome associated with schizophrenia.

Ann Pediatr Endocrinol Metab

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

Published: March 2014

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049549PMC
http://dx.doi.org/10.6065/apem.2014.19.1.42DOI Listing

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