Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Mar;19(1):42-4.
doi: 10.6065/apem.2014.19.1.42. Epub 2014 Mar 31.

Mosaic Turner syndrome associated with schizophrenia

Sook Young Jung  1 , Joo Won Park  2 , Dong Hyun Kim  1 , Yong Hoon Jun  1 , Jeong Seop Lee  3 , Ji Eun Lee  1
Affiliations

Mosaic Turner syndrome associated with schizophrenia

Sook Young Jung et al. Ann Pediatr Endocrinol Metab. 2014 Mar.

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.

Keywords: Mosaicism; Schizophrenia; Turner syndrome; X chromosome.

PubMed Disclaimer

Conflict of interest statement

No potential conflict of interest relevant to this article was reported.

References

    1. Boman UW, Mol l, Alb e. Psychological aspects of Turner syndrome. J Psychosom Obstet Gynaecol. 1998;19:1–18. - PubMed
    1. Lynn PM, Davies W. The 39,XO mouse as a model for the neurobiology of Turner syndrome and sex-biased neuropsychiatric disorders. Behav Brain Res. 2007;179:173–182. - PubMed
    1. Kawanishi C, Kono M, Onishi H, Ishii N, Ishii K. A case of Turner syndrome with schizophrenia: genetic relationship between Turner syndrome and psychosis. Psychiatry Clin Neurosci. 1997;51:83–85. - PubMed
    1. Kang B, Sung HU, Kim BK, Park SY, Kim SK, Kwon YS, et al. A case of Turner syndrome associated with idiopathic central diabetes insipidus. J Korean Soc Pediatr Endocrinol. 2011;16:56–60.
    1. Murphy DG, DeCarli C, Daly E, Haxby JV, Allen G, White BJ, et al. X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome. Lancet. 1993;342:1197–1200. - PubMed

LinkOut - more resources