Congenital Hyperinsulinism Research

Congenital hyperinsulinism research has been a decades-long focus at Children’s Hospital of Philadelphia (CHOP). Learn about our experts’ contributions to the understanding of HI and its treatment.

2019

Vajravelu, M.E., Congdon, M., Mitteer, L., Koh, J., Givler, S., Shults, J., and De León, D.D.: Continuous intragastric dextrose: A therapeutic option for refractory hypoglycemia in congenital hyperinsulinism. Hormone Research in Paediatrics, 91(1): 62-68, 2019. doi: 10.1159/000491105. PMID: 30086540

Grand, K., Gonzalez-Gandolfi, C., Ackermann, A.M., Aljeaid, D., Bedoukian, E., Bird, L.M., De Leon, D.D., Diaz, J., Hopkin, R.J., Kadakia, S.P., Keena, B., Klein, K.O., Krantz, I., Leon, E., Lord, K., McDougall, C., Medne, L, Skraban, C.M., Stanley, C.A., Tarpinian, J., Zackai, E., Deardorff, M.A., and Kalish, J.M.: Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. American Journal of Medical Genetics Part A, February 2019. doi: 10.1002/ajmg.a.61062. PMID: 30719864

Hawkes, C.P., Lado, J.J., Givler, S., and De Leon, D.D.: The effect of continuous intravenous glucagon on glucose requirements in infants with congenital hyperinsulinism. Journal of Inherited Metabolic Disease Reports, 45: 45-50, 2019. doi: 10.1007/8904_2018_140. PMCID: PMC6336552

Adzick NS, De Leon DD, States LJ, Lord K, Bhatti TR, Becker SA, Stanley CA. Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children. J Pediatr Surg. 2019 Jan;54(1):27-32. doi: 10.1016/j.jpedsurg.2018.10.030. Epub 2018 Oct 5. PMID: 30343978

2018

Herrera, A., Vajravelu, M.E., Givler, S., Mitteer, L., Avitabile, C.M., Lord, K., and De León, D.D.: Prevalence of adverse events in children with congenital hyperinsulinism treated with diazoxide. Journal of Clinical Endocrinology and Metabolism, 103(12): 4365-4372, December 2018. doi: 10.1210/jc.2018-01613. PMCID: PMC6207144

Vajravelu, M.E., Chai, J., Krock, B., Baker, S., Langdon, D., Alter, C., De León, D.D.: Congenital hyperinsulinism and hypopituitarism attributable to a mutation in FOXA2. Journal of Clinical Endocrinology and Metabolism, 103(3): 1042-1047. March 1, 2018. doi: 10.1210/jc.2017-02157. PMCID: PMC6276717

Gibson CE, Boodhansingh KE, Li C, Conlin L, Chen P, Becker SA, Bhatti T, Bamba V, Adzick NS, De Leon DD, Ganguly A, Stanley CA. Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Horm Res Paediatr. 2018 Jun 14; 1-10. [Epub ahead of print] PMID: 29902804

2017

Li, C., Ackermann, A.M., Patel, P., Chen, P., Boodhansingh, K.E., Givler, S., Bhatti, T.R., Liu, C., Schug, J., Doliba, N., Matschinsky, F.M., Nissim, I., Kaestner, K.H., Naji, A., Adzick, N.S., Stanley, C.A., and De León, D.D.: Functional and metabolic evaluation of islets from infants with hyperinsulinism due to loss of function mutations of ATP-dependent potassium channels. Diabetes 66(7): 1901-1913, July 2017. PMCID: PMC5482088

Banerjee I, De León D, Dunne MJ. Extreme caution on the use of sirolimus for the congenital hyperinsulinism in infancy. Orphanet J Rare Dis. 2017 Apr 14;12(1):70.

Ferrara CT, Boodhansingh KE, Paradies E, Giuseppe F, Steinkrauss LJ, Topor LS, Quintos JB, Ganguly A, De León DD, Palmieri F, Stanley CA. Novel hypoglycemia phenotype in congenital hyperinsulinism due to dominant mutations of uncoupling protein 2. J Clin Endocrinol Metab. 2017 Mar 1;102(3):942-949.

Barrosse-Antle M, Su C, Chen P, Boodhansingh KE, Smith TJ, Stanley CA, De León DD, Li C. A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase. Pediatr Diabetes. 2017 Feb 6.

De León DD, Stanley CA. Congenital hypoglycemia disorders: new aspects of etiology, diagnosis, treatment and outcomes: Highlights of the Proceedings of the Congenital Hypoglycemia Disorders Symposium, Philadelphia April 2016. Pediatr Diabetes. 2017 Feb;18(1):3-9.

McMahon AW, Wharton GT, Thornton P, De León DD. Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf. 2017 Jan;26(1):26-31.

2016

Yang TB, McMahon P, De Léon DD, Treat JR. Use of propranolol for treating hemangiomas in infants with previously diagnosed hypoglycemic conditions. Pediatr Dermatol. 2016 Nov;33(6):e381-e384.

Martin GM, Rex EA, Devaraneni P, Denton JS, Boodhansingh KE, De León DD, Stanley CA, Shyng SL. Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations. J Biol Chem. 2016 Oct 14;291(42):21971-21983. Epub 2016 Aug 29.

Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency. J Pediatr. 2016 Aug;175:130-136.e8.

Coughlin CC, Roy SM, Arkin LM, Adzick NS, Yan AC, De León DD, Rubin AI. Iatrogenic necrolytic migratory erythema in an infant with congenital hyperinsulinism. Pediatr Dermatol. 2016 Mar-Apr;33(2):e43-7.

Bhatti TR, Ganapathy K, Huppman AR, Conlin L, Boodhansingh KE, MacMullen C, Becker S, Ernst LM, Adzick NS, Ruchelli ED, Ganguly A, Stanley CA: Histologic and molecular profile of pediatric insulinomas: Evidence of a paternal parent-of-origin effect. J Clin Endocrinol Metab. 2016 Mar;101(3):914-22

Stanley CA. Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders. J Clin Endocrinol Metab. 2016 Mar;101(3):815-26.

Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, De León DD, Stanley CA, Deardorff MA. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet. 2016 Jan;53(1):53-61. doi:10.1136/jmedgenet-2015-103394. PMCID: PMC4740975

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 Jan;168:212-9.

Hawkes CP, Grimberg A, Dzata VE, De León DD. Adding Glucagon-Stimulated GH Testing to the Diagnostic Fast Increases the Detection of GH-Sufficient Children. Horm Res Paediatr. 2016;85(4):265-72.

Hawkes CP, Adzick NS, Palladino AA, DeLeon DD: Late presentation of fulminant necrotizing enterocolitis in a child with hyperinsulinism on octreotide therapy. Horm Res Paediatr 86:131-136, 2016.

Kalish JM, Boodhansingh KE, Bhatti TR, Ganguly A, Conlin LK, Becker SA, Givler S, Mighion L, Palladino AA, Adzick NS, DeLeon DD, Stanley CA, Deardorff MA. Persistent congenital hyperinsulinism in children with mosaic paternal 11p uniparental isodisomy and variable features of Beckwith-Wiedemann Syndrome. Journal of Medical Genetics 53:53-61, 2016.

2013

Laje P, States LJ, Zuang H, Becker SA, Palladino AA, Stanley CA, Adzick NS: The accuracy of PET/CT scan in the diagnosis of the focal form of congenital hyperinsulinism. J Pediatr Surg 48:388-393, 2013.

Lord K, De León DD. Monogenic hyperinsulinemic hypoglycemia: current insights into the pathogenesis and management. Int J Pediatr Endocrinol. 2013 Feb 6;2013(1):3.

18F-DOPA PET Scan and Congenital Hyperinsulinism Accuracy of PET/CT Scan in the diagnosis of the focal form of congenital hyperinsulinism. Laje P. States LJ. Zhuang H. Becker SA. Palladino AA. Stanley CA. Adzick NS. Journal of Pediatric Surgery. 48(2):388-93, 2013 Feb. [Journal Article] UI: 23414871

2012

GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel. Calabria AC. Li C. Gallagher PR. Stanley CA. De Leon DD. Diabetes. 61(10):2585-91, 2012 Oct.

Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. [Review] Senniappan S. Shanti B. James C. Hussain K. Journal of Inherited Metabolic Disease. 35(4):589-601, 2012 Jul.

2011

Palladino AA, Stanley CA. A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Seminars in Pediatric Surgery. 20(1):32-7, 2011 Feb.

Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanne-Chantelot C, de Lonlay P. Congenital hyperinsulinism: current trends in diagnosis and therapy. [Review] Orphanet Journal Of Rare Diseases. 6:63, 2011.

2009

Palladino AA, Bennett MJ, Stanley CA. Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. [Review] [66 refs][Reprint in Ann Biol Clin (Paris). 2009 May-Jun;67(3):245-54; PMID: 19411227] Clinical Chemistry. 54(2):256-63, 2008 Feb.

2007

De Leon DD, Stanley CA. Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. [Review] [66 refs] Nature Clinical Practice Endocrinology & Metabolism. 3(1):57-68, 2007 Jan.

Hardy OT, Hernandez-Pampaloni M, Saffer JR, Suchi M, Ruchelli E, Zhuang H, et al. Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr. 2007 Feb;150(2):140-5.

Hardy OT, Hernandez-Pampaloni M, Saffer JR, Scheuermann JS, Ernst LM, Freifelder R, et al. Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab. 2007 Dec;92(12):4706-11.

Peranteau WH, Bathaii SM, Pawel B, Hardy O, Alavi A, Stanley CA, Adzick NS. Multiple ectopic lesions of focal islet adenomatosis identified by positron emission tomography scan in an infant with congenital hyperinsulinism. J Pediatr Surg. 2007 Jan;42(1):188-92.

Hardy O, Suchi M, Adzick NS, Alavi A, Stanley CA: Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. Journal of Pediatrics 150:140-145, 2007.

2006

Suchi M, MacMullen C, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA: Molecular and immunohistochemical analyses of focal form of congenital hyperinsulinism. Molecular Pathology 19:122-129, 2006.

Hussain K, Seppanen M, Nanto-Salonen K, Stanley CA, Adzick NS, Thornton P, Minn H: The diagnosis of ectopic focal hyperinsulinism of infancy with [18F] – DOPA Positron Emission Tomography. J Clin Endocrinol Metab 91:2839-42, 2006.

charlotte

Stay in Touch

Subscribe to HI Hope, our e-newsletter for families.

mother holding son

Your Child's HI Appointment

Your first visit will be either an outpatient or inpatient visit, depending on your child’s needs.