ABSTRACT The 48,XXYY syndrome is a rare sex chromosome aneuploidy associated with diverse physical, developmental, and endocrine abnormalities. This case report highlights a 15-year-old male with 48,XXYY syndrome presenting with hypopituitarism and a Rathke’s cleft cyst, offering insights into the interplay between genetic syndromes and pituitary dysfunction. The patient exhibited hyperprolactinemia, central hypothyroidism, central hypoadrenalism, and elevated gonadotropin levels. Brain magnetic resonance imaging revealed a cystic lesion within the sella turcica, consistent with a Rathke’s cleft cyst. The patient also […]