A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma

Abstract

Pituitary adenomas may be the presenting and/or sole feature of <i>SDHB</i> mutation-related disease. <i>SDHx</i> mutated pituitary adenomas may display clinically aggressive behaviour and demonstrate variable response to medical treatment.Histological evidence of intracytoplasmic vacuoles in a pituitary adenoma might suggest an SDH-deficient tumour and should prompt further screening for <i>SDHx</i> mutations.Immunohistochemistry may not always predict the presence of <i>SDHx</i> mutations.