Hyperinsulinism Publications

Congenital hyperinsulinism


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


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


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.


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.

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.


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. Read the abstract.

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. Read the abstract.

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 Read the article.


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. Read the article.

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. Read the abstract.


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

Congenital hyperinsulinism: current trends in diagnosis and therapy. [Review] 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. Orphanet Journal Of Rare Diseases. 6:63, 2011. Read the article.


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] Palladino AA. Bennett MJ. Stanley CA. Clinical Chemistry. 54(2):256-63, 2008 Feb. Read the abstract.


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

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. Read the abstract.

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. Read the abstract.

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. Read the abstract.

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. Read the abstract.


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. Read the abstract.

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. Read the abstract.

Congenital hyperinsulinism and surgery


Pancreatic surgery in infants with Beckwith-Wiedemann Syndrome and Hyperinsulinism. Laje P. Palladino AA. Bhatti TR. States LJ. Stanley CA. Adzick NS. J Pediatr Surg. 2013 Dec;48(12):2511-6. Read the abstract.


Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism. Laje P. Stanley CA. Palladino AA. Becker SA. Adzick NS. J Pediatr Surg. 2012 Jan;47(1):130-5. Read the article.


Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the -cell sulfonylurea receptor SUR1.[Erratum appears in Diabetes. 2011 Nov;60(11):3097] Macmullen CM. Zhou Q. Snider KE. Tewson PH. Becker SA. Aziz AR. Ganguly A. Shyng SL. Stanley CA. Diabetes. 60(6):1797-804, 2011 Jun. Read the article.


Intussusception after pancreatic surgery in children: a case series. Laje P. Stanley CA. Adzick NS. Journal of Pediatric Surgery. 45(7):1496-9, 2010 Jul. Read the abstract.

Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. [Review] [32 refs] Laje P. Halaby L. Adzick NS. Stanley CA. Pediatric Diabetes. 11(2):142-7, 2010 Mar. Read the abstract.

GDH-HI (Hyperinsulinism-Hyperammonemia)The hyperinsulinism/hyperammonemia syndrome. [Review] Palladino AA. Stanley CA. Reviews in Endocrine & Metabolic Disorders. 11(3):171-8, 2010 Sep. Read the abstract.


Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.[Erratum appears in Dev Med Child Neurol. 2009 Jan;51(1):77. Note: Chadefaux-Vekemans, Bernadette [added]; Dan, Bernard [added]; de Lonlay,Pascale [added]] Read the abstract.

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Sayed S. Langdon DR. Odili S. Chen P. Buettger C. Schiffman AB. Suchi M. Taub R. Grimsby J. Matschinsky FM. Stanley CA. Diabetes. 58(6):1419-27, 2009 Jun. [Case Reports. Journal Article. Research Support, N.I.H., Extramural] Read the article.

Diagnostic difficulties in glucokinase hyperinsulinism. Meissner T. Marquard J. Cobo-Vuilleumier N. Maringa M. Rodriguez-Bada P. Garcia-Gimeno MA. Baixeras E. Weber J. Olek K. Sanz P. Mayatepek E. Cuesta-Munoz AL. Hormone & Metabolic Research. 41(4):320-6, 2009 Apr. [Case Reports. Journal Article. Research Support, Non-U.S. Gov't] Read the abstract.


Bahi-Buisson N. Roze E. Dionisi C. Escande F. Valayannopoulos V. Feillet F. Heinrichs C. Chadefaux-Vekemans B. Dan B. de Lonlay P. Developmental Medicine & Child Neurology. 50(12):945-9, 2008 Dec. Read the abstract.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. Pinney SE. MacMullen C. Becker S. Lin YW. Hanna C. Thornton P. Ganguly A. Shyng SL. Stanley CA. Journal of Clinical Investigation. 118(8):2877-86, 2008 Aug. [Journal Article] Read the abstract.


Peranteau WH, Ganguly A, Steinmiller L, Thornton P, Johnson MP, Howell LJ, Adzick NS, Stanley CA: Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: A case report. Fetal Diagnosis and Therapy 21:515-518, 2006. Read the abstract.


Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. Magge SN. Shyng SL. MacMullen C. Steinkrauss L. Ganguly A. Katz LE. Stanley CA. Journal of Clinical Endocrinology & Metabolism. 89(9):4450-6, 2004 Sep. Read the abstract.

Stanley CA, Thornton PS, Ganguly A, MacMillen C, Underwood P, Bhatia P, Steinkrauss L, Kaye R, Ruchelli E, Suchi M, Adzick NS: Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. Journal of Clinical Endocrinology and Metabolism 89:288-296, 2004. Read the abstract.

Adzick NS, Thornton PS, Stanley CA, Kaye RD, Ruchelli E: A multidisciplinary approach to the focal form of congenital hyperinsulinism leads to successful treatment by partial pancreatectomy. J Pediatr Surg 39:270-275, 2004. Read the abstract.


Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. Hsu BY. Kelly A. Thornton PS. Greenberg CR. Dilling LA. Stanley CA. Journal of Pediatrics. 138(3):383-9, 2001 Mar. Read the abstract.


Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE, Glaser B, Poncz M. Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators. Diabetes. 2000 Apr;49(4):667-73. Read the abstract.


Lovvorn HN, Nance ML, Ferry RJ, Stolte L, Baker L, O’Neill JA, Schnaufer L, Stanley CA, Adzick NS: Congenital hyperinsulinism and the surgeon: Lessons learned over 35 years. J Pediatr Surg 34:786-793, 1999. Read the abstract.


Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med. 1998 May 7;338(19):1352-7. Read the abstract.

Glucokinase Hyperinsulinism Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. New Engl J Med. 1998 Jan 22;338(4)226-30. Read the article.



Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. Flanagan SE. Patch AM. Locke JM. Akcay T. Simsek E. Alaei M. Yekta Z. Desai M. Kapoor RR. Hussain K. Ellard S. Journal of Clinical Endocrinology & Metabolism. 96(3):E498-502, 2011 Mar. Read the article.


Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. Li C. Chen P. Palladino A. Narayan S. Russell LK. Sayed S. Xiong G. Chen J. Stokes D. Butt YM. Jones PM. Collins HW. Cohen NA. Cohen AS. Nissim I. Smith TJ. Strauss AW. Matschinsky FM. Bennett MJ. Stanley CA. Journal of Biological Chemistry. 285(41):31806-18, 2010 Oct 8. Read the article.

HNF1a and 4a HI


Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. Stanescu DE. Hughes N. Kaplan B. Stanley CA. De Leon DD. Journal of Clinical Endocrinology & Metabolism. 97(10):E2026-30, 2012 Oct. Read the article.


Rare forms of congenital hyperinsulinism. [Review] Marquard J. Palladino AA. Stanley CA. Mayatepek E. Meissner T. Seminars in Pediatric Surgery. 20(1):38-44, 2011 Feb. Read the abstract.


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