Cantú Syndrome with Coexisting Familial Pituitary Adenoma

This study described a three-generation family with 5 members affected by Cantú syndrome, characterized by acromegaloid facies and hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, exhibited marked hypertrichosis and coarsening facial features, but her GH axis was normal. Similarly, her father, paternal aunt, and half-sibling, who were evaluated for acromegaly, also had normal GH axes. However, two family members had non-functioning pituitary macroadenomas, a feature not previously associated with Cantú syndrome. The study highlighted the need for awareness among endocrinologists regarding the complex presentation of Cantú syndrome and its potential link to pituitary adenomas, which remains unclear.