Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency.

Background: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome.

Objective: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017.

Methods: Records of girls with hyperinsulinism and Turner syndrome were reviewed.