References – Congenital Hyperinsulinism International

Sources for “Understanding the Condition“

Overview
Lapidus D, De León DD, Thornton PS, et al. The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease. Horm Res Paediatr. Published online June 17, 2024:1-8. doi:10.1159/000539464

Thornton PS, Stanley CA, De Leon DD. Congenital Hyperinsulinism: An Historical Perspective. Horm Res Paediatr. 2022;95(6):631-637. doi:10.1159/000526442

Mechanism of Disease
Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev. 2004;84(1):239-275. doi:10.1152/physrev.00022.2003

Causes of Hyperinsulinism
De Leon DD, Arnoux JB, Banerjee I, et al. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2024;97(3):279-298. doi:10.1159/000531766

Bailey MJ, Rout A, Harding JE, Alsweiler JM, Cutfield WS, McKinlay CJD. Prolonged transitional neonatal hypoglycaemia: characterisation of a clinical syndrome. J Perinatol Off J Calif Perinat Assoc. 2021;41(5):1149-1157. doi:10.1038/s41372-020-00891-w

Avatapalle BH, Banerjee I (Indi), Shah S, et al. Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism. Front Endocrinol. 2013;4. doi:10.3389/fendo.2013.00060

Types of HI
De Leon DD, Arnoux JB, Banerjee I, et al. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2024;97(3):279-298. doi:10.1159/000531766

Rasmussen AG, Melikian M, Globa E, et al. The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center. Pediatr Diabetes. 2020;21(3):441-455. doi:10.1111/pedi.12989

Adzick NS, De Leon DD, States LJ, et al. Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. J Pediatr Surg. 2019;54(1):27-32. doi:10.1016/j.jpedsurg.2018.10.030

States LJ, Saade-Lemus S, De Leon DD. 18-F-L 3,4-Dihydroxyphenylalanine PET/Computed Tomography in the Management of Congenital Hyperinsulinism. PET Clin. 2020;15(3):349-359. doi:10.1016/j.cpet.2020.03.004

Boss M, Rottenburger C, Brenner W, et al. 68Ga-NODA-Exendin-4 PET/CT Improves the Detection of Focal Congenital Hyperinsulinism. J Nucl Med. 2022; 63:310-315. doi: 10.2967/jnumed.121.262327

Han B, Mohamed Z, Estebanez MS, et al. Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. J Clin Endocrinol Metab. 2017;102(9):3261-3267. doi:10.1210/jc.2017-00158

Muukkonen L, Männistö J, Jääskeläinen J, Hannonen R, Huopio H. The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. Dev Med Child Neurol. 2019;61(4):451-457. doi:10.1111/dmcn.14039

Beltrand J, Caquard M, Arnoux JB, et al. Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism. Diabetes Care. 2012;35(2):198-203. doi:10.2337/dc11-1296

Genetics
De Leon DD, Arnoux JB, Banerjee I, et al. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2024;97(3):279-298. doi:10.1159/000531766

Rosenfeld E, Ganguly A, De Leon DD. Congenital hyperinsulinism disorders: Genetic and clinical characteristics. Am J Med Genet C Semin Med Genet. 2019;181(4):682-692. doi:10.1002/ajmg.c.31737

Snider KE, Becker S, Boyajian L, et al. Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism. J Clin Endocrinol Metab. 2013;98(2):E355-E363. doi:10.1210/jc.2012-2169

De Franco E, Saint‐Martin C, Brusgaard K, et al. Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020;41(5):884-905. doi:10.1002/humu.23995

Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr. 1997;130(4):661-664. doi:10.1016/s0022-3476(97)70256-7

Li C, Juliana CA, Yuan Y, et al. Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations. Diabetes. 2023;72(12):1809-1819. doi:10.2337/db23-0465

Tung JYL, Boodhansingh K, Stanley CA, De León DD. Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations. Pediatr Diabetes. 2018;19(5):910-916. doi:10.1111/pedi.12655

Stanescu DE, Hughes N, Kaplan B, Stanley CA, De León DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab. 2012;97(10):E2026-2030. doi:10.1210/jc.2012-1356

Pearson ER, Boj SF, Steele AM, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007;4(4):e118. doi:10.1371/journal.pmed.0040118

Diagnosis
De Leon DD, Arnoux JB, Banerjee I, et al. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2024;97(3):279-298. doi:10.1159/000531766

Ferrara C, Patel P, Becker S, Stanley CA, Kelly A. Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children. J Pediatr. 2016;168:212-219. doi:10.1016/j.jpeds.2015.09.045

Estebanez MS, Worth C, Banerjee I. Congenital Hyperinsulinism – Notes for the General Pediatrician. Indian Pediatr. 2024;61(6):578-584

Stanley CA, Rozance PJ, Thornton PS, et al. Re-evaluating “transitional neonatal hypoglycemia”: mechanism and implications for management. J Pediatr. 2015;166(6):1520-1525.e1. doi:10.1016/j.jpeds.2015.02.045

Beardsall K. Measurement of glucose levels in the newborn. Early Hum Dev. 2010;86(5):263-267. doi:10.1016/j.earlhumdev.2010.05.005

Thornton PS, Stanley CA, De Leon DD, et al. Recommendations from the Pediatric Endocrine Society for Evaluation and Management of Persistent Hypoglycemia in Neonates, Infants, and Children. J Pediatr. 2015;167(2):238-245. doi:10.1016/j.jpeds.2015.03.057

Stanley CA, Baker L. Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia. Pediatrics. 1976;57(5):702-711

Treatment
De Leon DD, Arnoux JB, Banerjee I, et al. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2024;97(3):279-298. doi:10.1159/000531766

Estebanez MS, Worth C, Banerjee I. Congenital Hyperinsulinism – Notes for the General Pediatrician. Indian Pediatr. 2024;61(6):578-584

Shaikh MG, Lucas-Herald AK, Dastamani A, et al. Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus. Front Endocrinol. 2023;14:1231043. doi:10.3389/fendo.2023.1231043

Medications
Brar PC, Heksch R, Cossen K, et al. Management and Appropriate Use of Diazoxide in Infants and Children with Hyperinsulinism. J Clin Endocrinol Metab. 2020;105(12):dgaa543. doi:10.1210/clinem/dgaa543

Abu-Osba YK, Manasra KB, Mathew PM. Complications of diazoxide treatment in persistent neonatal hyperinsulinism. Arch Dis Child. 1989;64(10):1496-1500. doi:10.1136/adc.64.10.1496

van der Steen I, van Albada ME, Mohnike K, et al. A Multicenter Experience with Long-Acting Somatostatin Analogues in Patients with Congenital Hyperinsulinism. Horm Res Paediatr. 2018;89(2):82-89. doi:10.1159/000485184

McMahon AW, Wharton GT, Thornton P, De Leon DD. Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf. 2017;26(1):26-31. doi:10.1002/pds.4144

Cuff H, Lord K, Ballester L, Scully T, Stewart N, De Leon DD. The Use of Lanreotide in the Treatment of Congenital Hyperinsulinism. J Clin Endocrinol Metab. 2022;107(8):e3115-e3120. doi:10.1210/clinem/dgac322

Surgery
De Leon DD, Arnoux JB, Banerjee I, et al. International Guidelines for the Diagnosis and Management of Hyperinsulinism. Horm Res Paediatr. 2024;97(3):279-298. doi:10.1159/000531766

Lord K, Dzata E, Snider KE, Gallagher PR, De León DD. Clinical presentation and management of children with diffuse and focal hyperinsulinism: a review of 223 cases. J Clin Endocrinol Metab. 2013;98(11):E1786-1789. doi:10.1210/jc.2013-2094

Arya VB, Senniappan S, Demirbilek H, et al. Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PloS One. 2014;9(5):e98054. doi:10.1371/journal.pone.0098054

Lord K, Radcliffe J, Gallagher PR, Adzick NS, Stanley CA, De León DD. High Risk of Diabetes and Neurobehavioral Deficits in Individuals With Surgically Treated Hyperinsulinism. J Clin Endocrinol Metab. 2015;100(11):4133-4139. doi:10.1210/jc.2015-2539

On-Going Management
Raskin J, Pasquini TLS, Bose S, Tallis D, and Schmitt J. Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living with Congenital Hyperinsulinism. Front. Endocrinol. 2022; 13(886552). doi: 10.3389/fendo.2022.886552

Sweet CB, Grayson S, Polak M. Management Strategies for Neonatal Hypoglycemia. J Pediatr Pharmacol Ther JPPT. 2013;18(3):199-208. doi:10.5863/1551-6776-18.3.199

Pasquini TLS, Mesfin M, Schmitt J, Raskin J. Global Registries in Congenital Hyperinsulinism. Front Endocrinol. 2022;13:876903. doi:10.3389/fendo.2022.876903

Meissner T, Wendel U, Burgard P, Schaetzle S, Mayatepek E. Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol. 2003;149(1):43-51. doi:10.1530/eje.0.1490043

Worth C, Worthington S, Auckburally S, et al. First Accuracy and User-Experience Evaluation of New Continuous Glucose Monitoring System for Hypoglycemia Due to Hyperinsulinism. J Diabetes Sci Technol. Published online April 14, 2024:19322968241245923. doi:10.1177/19322968241245923

Beardsall K, Thomson L, Guy C, et al. Real-time continuous glucose monitoring in preterm infants (REACT): an international, open-label, randomised controlled trial. Lancet Child Adolesc Health. 2021;5(4):265-273. doi:10.1016/S2352-4642(20)30367-9

Menni F, de Lonlay P, Sevin C, et al. Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics. 2001;107(3):476-479. doi:10.1542/peds.107.3.476

Muukkonen L, Männistö J, Jääskeläinen J, Hannonen R, Huopio H. The effect of hypoglycaemia on neurocognitive outcome in children and adolescents with transient or persistent congenital hyperinsulinism. Dev Med Child Neurol. 2019;61(4):451-457. doi:10.1111/dmcn.14039

Ludwig A, Enke S, Heindorf J, Empting S, Meissner T, Mohnike K. Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism. Horm Res Paediatr. 2018;89(1):1-6. doi:10.1159/000481774

McKinlay CJD, Alsweiler JM, Anstice NS, et al. Association of Neonatal Glycemia With Neurodevelopmental Outcomes at 4.5 Years. JAMA Pediatr. 2017;171(10):972. doi:10.1001/jamapediatrics.2017.1579