Pituitary Complications of Enchondromas Due to Maffucci Syndrome

Maffucci syndrome (MS) is a congenital disorder caused by a gain-of-function variant in isocitrate dehydrogenase-1 (<i>IDH1</i>) or isocitrate dehydrogenase-2 (<i>IDH2</i>) genes on chromosomes 2 and 15, respectively. Common manifestations include the development of multiple enchondromas, chondrosarcomas, and intracranial tumors such as pituitary adenomas. Endocrinological conditions are less frequently associated with MS. We present a patient with MS with complete anterior pituitary insufficiency with central hypothyroidism, adrenal insufficiency, and hypogonadotropic hypogonadism, which may be related to the mass effect of her intracranial enchondromas. With hormonal treatments including thyroid hormone replacement, hydrocortisone, and cabergoline, the patient's symptoms of fatigue and cold intolerance improved. We highlight the importance of endocrinological evaluation in patients with neurological tumors related to MS.