Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex

Von Hippel-Lindau disease, neurofibromatosis type 1, tuberous sclerosis complex, and Carney complex are inherited disorders associated with an increased risk of developing multiple tumors in both endocrine and non-endocrine organs. Although each syndrome results from different genetic alterations, all are transmitted in an autosomal dominant manner (or occur de novo) and show considerable variability in their clinical presentation. Endocrine manifestations include pheochromocytomas, paragangliomas, neuroendocrine tumors, adrenocortical lesions, and pituitary disease. Recognizing these syndromes is important, as it allows appropriate surveillance, identification of affected family members, and the use of targeted treatments when available. In this review, we discuss the genetic basis, clinical manifestations, and current management of these disorders, with particular attention to their endocrine features and recent therapeutic developments in a practical and accessible manner for endocrinologists involved in the care of these patients.