Cantú syndrome with coexisting familial pituitary adenoma.
Pedro MarquesRupert SpencerPatrick J MorrisonIan M CarrMary N DangDavid T BonthronSteven HunterMárta KorbonitsPublished in: Endocrine (2018)
Activating mutations in the ABCC9 and, less commonly, KCNJ8 genes-representing the two subunits of the ATP-sensitive potassium channel-have been linked with Cantú syndrome. Interestingly, minoxidil, a well-known ATP-sensitive potassium channel agonist, can cause a similar phenotype. There is no clear explanation why activating this channel would lead to acromegaloid features or hypertrichosis. This report raises awareness for this complex condition, especially for adult or pediatric endocrinologists who might see these patients referred for evaluation of acromegaloid features or hirsutism. The link between Cantú syndrome and pituitary adenomas is currently unclear.