Rare case of Turner syndrome patient with metastatic dysgerminoma and no Y-chromosomal material with pathogenic variants found in KIT and MTOR

CONCLUSION: Females with TS can develop metastatic dysgerminoma even in the absence of Y-chromosomal material. This questions the current understanding of Y-chromosomal material being essential for the malignant transformation of a gonadoblastoma in the dysgenetic gonad.PMID:38281483 | DOI:10.1159/000536236

Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 28, 2024 Category: Genetics & Stem Cells Authors: Camilla Mains Balle Christine Gaasdal Kassentoft Jolinda Iris van Heusden Michael Knudsen Line Raaby Claus H øjbjerg Gravholt Source Type: research