ArticlePediatric diabetes2022
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Article in Pediatric diabetes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 8 citations in OpenAlex.
- Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.Reviews in endocrine & metabolic disorders · 2022Pooled it
- Congenital hyperinsulinism in an individual with CHARGE syndrome and a pathogenicJCEM case reports · 2026Article
- Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.Frontiers in endocrinology · 2025Article
- Syndromic forms of congenital hyperinsulinism.Frontiers in endocrinology · 2023Review
- Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.Pediatric diabetes · 2022Article
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Authors and funding
16 authors at 13 institutions in 5 countries.
Funding
Abstract
backgroundHyperinsulinism results from inappropriate insulin secretion during hypoglycaemia. Down syndrome is causally linked to a number of endocrine disorders including Type 1 diabetes and neonatal diabetes. We noted a high number of individuals with Down syndrome referred for hyperinsulinism genetic testing, and therefore aimed to investigate whether the prevalence of Down syndrome was increased in our hyperinsulinism cohort compared to the population.
methodsWe identified individuals with Down syndrome referred for hyperinsulinism genetic testing to the Exeter Genomics Laboratory between 2008 and 2020. We sequenced the known hyperinsulinism genes in all individuals and investigated their clinical features.
resultsWe identified 11 individuals with Down syndrome in a cohort of 2011 patients referred for genetic testing for hyperinsulinism. This represents an increased prevalence compared to the population (2.5/2011 expected vs. 11/2011 observed, p = 6.8 × 10
conclusionsDown 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.
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