International Journal of Endocrinology and Metabolism

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A Case Series: Congenital Hyperinsulinism

Mohammad Reza Alaei 1 , Susan Akbaroghli 2 , * , Mohammad Keramatipour 3 and Ali Alaei 4
Authors Information
1 Department of Pediatric Endocrinology, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
2 Genetic Counseling Division, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
3 Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, IR Iran
4 School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
Article information
  • International Journal of Endocrinology and Metabolism: October 01, 2016, 14 (4); e37311
  • Published Online: September 10, 2016
  • Article Type: Case Report
  • Received: March 28, 2016
  • Revised: August 22, 2016
  • Accepted: September 5, 2016
  • DOI: 10.5812/ijem.37311

To Cite: Alaei M R, Akbaroghli S, Keramatipour M, Alaei A. A Case Series: Congenital Hyperinsulinism, Int J Endocrinol Metab. 2016 ; 14(4):e37311. doi: 10.5812/ijem.37311.

Copyright © 2016, Research Institute For Endocrine Sciences and Iran Endocrine Society. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Introduction
2. Case Presentation
3. Discussion
  • 1. Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al. Familial Hyperinsulinism--GeneReviews (®).
  • 2. Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, et al. Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med. 1997; 336(10): 703-6[DOI][PubMed]
  • 3. Kliegman RM, Behrman RE, Jenson HB, Stanton BMD. Nelson textbook of pediatrics. 2007;
  • 4. Al-Nassar S, Sakati N, Al-Ashwal A, Bin-Abbas B. Persistent hyperinsulinaemic hypoglycaemia of infancy in 43 children: long-term clinical and surgical follow-up. Asian J Surg. 2006; 29(3): 207-11[DOI][PubMed]
  • 5. Raghavan V, Srinivasan V, Snow K. Hypoglycemia. 2010;
  • 6. Senniappan S, Arya VB, Hussain K. The molecular mechanisms, diagnosis and management of congenital hyperinsulinism. Indian J Endocrinol Metab. 2013; 17(1): 19-30[DOI][PubMed]
  • 7. Mazor-Aronovitch K, Gillis D, Lobel D, Hirsch HJ, Pinhas-Hamiel O, Modan-Moses D, et al. Long-term neurodevelopmental outcome in conservatively treated congenital hyperinsulinism. Eur J Endocrinol. 2007; 157(4): 491-7[DOI][PubMed]
  • 8. Chandran S, Peng FY, Rajadurai VS, Lu YT, Chang KT, Flanagan SE, et al. Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. Endocrinol Diabetes Metab Case Rep. 2013; 2013: 130041[DOI][PubMed]
  • 9. Sempoux C, Capito C, Bellanne-Chantelot C, Verkarre V, de Lonlay P, Aigrain Y, et al. Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. J Clin Endocrinol Metab. 2011; 96(12): 3785-93[DOI][PubMed]
  • 10. Bellanne-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, et al. ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet. 2010; 47(11): 752-9[DOI][PubMed]
  • 11. Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, et al. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes. 2008; 57(1): 259-63[DOI][PubMed]
  • 12. Parappil H, Rahman S, Soliman A, Ismail A, Bozom IAL, Hussain K. Congenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case report. Int J Endocrinol Metabol. 2009; 2009(2, Spring): 95-100
  • 13. Peranteau WH, Ganguly A, Steinmuller L, Thornton P, Johnson MP, Howell LJ, et al. Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report. Fetal Diagn Ther. 2006; 21(6): 515-8[DOI][PubMed]
  • 14. Menni F, de Lonlay P, Sevin C, Touati G, Peigne C, Barbier V, et al. Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics. 2001; 107(3): 476-9[PubMed]
  • 15. Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, et al. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009; 30(2): 170-80[DOI][PubMed]
  • 16. Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, et al. Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol. 2014; 171(6): 685-95[DOI][PubMed]
  • 17. Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, et al. Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Mod Pathol. 2006; 19(1): 122-9[DOI][PubMed]
  • 18. Mohnike K, Wieland I, Barthlen W, Vogelgesang S, Empting S, Mohnike W, et al. Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism. Horm Res Paediatr. 2014; 81(3): 156-68[DOI][PubMed]
  • 19. Di Candia S, Gessi A, Pepe G, Sogno Valin P, Mangano E, Chiumello G, et al. Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene. Eur J Endocrinol. 2009; 160(6): 1019-23[DOI][PubMed]
  • 20. Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, et al. Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab. 2011; 96(3)-502[DOI][PubMed]
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