Turner Syndrome with 45,X/46,XY mosaicism underwent gonadectomy: Report of 3 cases

Abstract

Turner syndrome (TS) classically is characterized by complete or partial absence of one X chromosome. A Y chromosome can be detected in some of the TS patients called mosaicism. In this study we report three cases of TS with a female phenotype and a 45,X/46,XY karyotype. All of the cases were referred or applied to our hospital for gonadectomy at third decade of their lives. They had many of the stigmata of TS. We performed gonadectomy to our patients. In one of them histopathology was suggestive for gonadoblastoma. Further genetic evaluation must be made in patients with TS for revealing a probable Y chromosome and these patients should be informed for gonadectomy.

Keywords

• Turner syndrome
• mosaicism
• gonadoblastoma

References

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