Mosaic Turner syndrome associated with schizophrenia

Area of Science:

• Genetics
• Endocrinology
• Psychiatry

Background:

• Turner syndrome (45,X) is a sex-chromosome disorder affecting 1 in 2,500 female births.
• Concomitant Turner syndrome and schizophrenia is exceptionally rare, with most reported cases involving a mosaic karyotype (45,X/46,XX).

Purpose of the Study:

• To present a case of Turner syndrome with a mosaic karyotype (45,X/46,XX) and co-occurring schizophrenia, mental retardation, and hypothyroidism.
• To explore the potential role of X chromosome genes, such as HOPA, in the development of schizophrenia in individuals with Turner syndrome.

Main Methods:

• Case report of a 21-year-old woman diagnosed with Turner syndrome, mosaic karyotype (45,X/46,XX), mental retardation, hypothyroidism, and schizophrenia.
• Review of literature regarding the comorbidity of Turner syndrome and schizophrenia.

Main Results:

• The patient presented with a mosaic karyotype (45,X/46,XX) and exhibited symptoms of mental retardation, hypothyroidism, and schizophrenia.
• The HOPA gene, located at Xq13, is implicated in mental retardation, hypothyroidism, and schizophrenia, supporting the hypothesis of X chromosome gene involvement.

Conclusions:

• This case provides a potential clue supporting the hypothesis that genes on the X chromosome may play a role in schizophrenia development.
• Further research, including more case reports of comorbid Turner syndrome and schizophrenia, is necessary to elucidate the exact cause of schizophrenia in these patients.