[Y chromosome in Turner syndrome]
Aleksandra Rojek1, Karolina Kwasiuk2, Monika Obara-Moszyńska1
1Department of Pediatric Endocrinology and Rheumatology, 2nd Chair of Pediatrics, Medical Faculty I, Poznan University of Medical Sciences, Poland.
Pediatric Endocrinology, Diabetes, and Metabolism
|October 27, 2017
Summary
Turner syndrome (TS) involves X chromosome abnormalities. Reviewing Y chromosome material in TS is crucial for understanding malignancy risks in affected individuals.
Area of Science:
- Genetics
- Gynecology
- Oncology
Background:
- Turner syndrome (TS) is a genetic disorder affecting girls, caused by X chromosome aberrations.
- The most frequent karyotype is 45,X monosomy.
- A subset of TS patients (5-6%) exhibit Y chromosome material or mosaicism.
Purpose of the Study:
- To review current knowledge on Y chromosome genetic material in Turner syndrome.
- To assess the risk of malignancies in TS patients with Y chromosome material.
Main Methods:
- Literature review of genetic and clinical data.
- Analysis of Y chromosome presence and its association with gonadal tumors.
Main Results:
- Patients with TS and Y chromosome material have a significant risk of gonadal malignancies.
- Specific malignancies include gonadoblastoma and dysgerminoma.
Conclusions:
- The presence of Y chromosome material in TS necessitates careful monitoring for cancer development.
- Further research is needed to fully elucidate the mechanisms of Y chromosome-related tumorigenesis in TS.
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