Article
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 - 1 Jun 2022
Hewat Thomas I, Laver Thomas W, Houghton Jayne A L, Männistö Jonna M E, Alvi Sabah, Brearey Stephen P, Cody Declan, Dastamani Antonia, De Los Santos La Torre Miguel, Murphy Nuala, Rami-Merhar Birgit, Wefers Birgit, Huopio Hanna, Banerjee Indraneel, Johnson Matthew B, Flanagan Sarah E
Abstract excerpt
BACKGROUND: Hyperinsulinism 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...
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