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Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review

12 Oct 2023

Abstract excerpt

BACKGROUND: Y chromosome material stands as an independent risk determinant for the onset of gonadoblastoma (GB) and subsequent gonadal germ cell tumours in individuals with Turner syndrome (TS). However, the delayed and underestimated identification of Y chromosome material through karyotyping within primary care settings exacerbates the intricacies of managing these patients over the long term. METHODS: We...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 37822273
DOI: 10.1002/mgg3.2300

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