Hypopituitarism and Rathke’s Cleft Cyst in 48,XXYY Syndrome: New Insights Into Sex Chromosome Aneuploidies

Article Title: Hypopituitarism and Rathke’s cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies

Authors: Batista, Nakaguma, Tavares, Batatinha, Nishi, Domenice, Padula, and Mendonca

Date of Publication: June 9, 2025

“The association between 48,XXYY syndrome and Rathke’s cleft cyst raises intriguing questions about the potential links between sex chromosome aneuploidies and pituitary abnormalities. This report emphasizes the need for comprehensive endocrine and structural assessments to optimize patient outcomes by contributing to the limited literature on 48,XXYY syndrome.”

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