Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and < b > < i > KDM6A < /i > < /b > Haploinsufficiency

Conclusion: These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency forKDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome.Horm Res Paediatr
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research