Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Thomas I HewatThomas W LaverJayne A L HoughtonJonna M E MännistöSabah AlviStephen P BreareyDeclan CodyAntonia DastamaniMiguel Angel De Los Santos-La TorreNuala MurphyBirgit M Rami-MerharBirgit WefersHanna HuopioIndraneel BanerjeeMatthew B JohnsonSarah E. FlanaganPublished in: Pediatric diabetes (2022)
Down syndrome is more common in patients with hyperinsulinism than in the population. This is likely due to an increased burden of non-genetic risk factors resulting from the Down syndrome phenotype. Down syndrome should not preclude genetic testing as coincidental monogenic hyperinsulinism and Down syndrome is possible.