Congenital hyperinsulinism (CHI) is a potentially life-threatening cause of severe hypoglycemia in the neonatal and infant period. • The incidence of CHI has been estimated to be around 1 in 50,000 in non-consanguineous populations and as high as 1 in 2,500 in areas with a higher rate of consanguinity. • Certain countries with high rates of consanguinity have a much higher infant and neonatal mortality rate than the rest of the world.
Novel Insights• Three novel homozygous variants are reported in genes ABCC8 and KCNJ11 causing CHI in three Kurdish consanguineous families. Two of these families have a notable history of unexplained neonatal deaths. • A small but significant percentage of all unexplained neonatal deaths could be due to undiagnosed CHI. Therefore, especially in regions with a high prevalence of consanguinity, undiagnosed CHI can contribute to higher infant and neonatal mortality rates.
AbstractIntroduction: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Biallelic pathogenic variants in K ATP channel subunit genes (ABCC8, KCNJ11), causing severe forms of CHI, are more prevalent in regions with a significant rate of consanguinity and may lead to unexplained neonatal deaths. We hypothesized that K ATP channel gene variants are the cause of CHI in three unrelated children from consanguineous