ESPE Yearbook of Paediatric Endocrinology

In Brief: The authors review advances in our understanding of congenital hyperinsulinism (CHI), including newly described molecular mechanisms, new treatments, and improved understanding of long-term outcomes.Comment: We apologise for the absence of the chapter on neonatal endocrinology in this year’s edition of the yearbook. It will be back next year! In the meantime, this review provides an excellent update on new advances in CHI, covering new mol...

Diabetes Care. 2021 Nov;44(11):2582-2585. doi: 10.2337/dc21-0416. PMID: 34518377.Brief Summary: This pilot study, in patients with post-pancreatectomy diabetes due to congenital hyperinsulinism, assessed pump-delivered insulin and glucagon (Bihormonal Bionic Pancreas, BHBP) to regulate blood glucose levels. BHBP controlled post-prandial glucose levels better than a conventional insulin pump but fur...

To read the full abstract: Horm Res Paediatr: 2018;89(6):413–422.This study examined the clinical and molecular aspects of girls with Turner syndrome and hyperinsulinaemic hypoglycemia (HH). Records of girls with hyperinsulinism and Turner syndrome were reviewed.The findings expand on previous observations suggesting a link between Turner syndrome and hyperins...

To read the full abstract: Genet Med. 2019 Jan;21(1):233–242.This study documented the clinical features and molecular diagnoses of 9 infants with persistent hyperinsulinism and Kabuki syndrome via a combination of sequencing and copy-number profiling methodologies.KS is characterized by typical facial features (long palpebral fissures with eversion of the lat...

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542–551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...