مجله‌ي بین المللی غدد درون‌ريز و متابوليسمInt J Endocrinol MetabMedical Scienceshttp://www.ijem.org1726-913XenCongenital Hyperinsulinism in a Neonate Due to a Novel Homozygous Mutation (ABCC8): A case reportParappil H^a, Rahman S^a, Soliman A^b, Ismail A^c, AL Bozom I^d, Hussain K^eParappil H^a Rahman S<sup>a</sup> Soliman A<sup>b</sup> Ismail A<sup>c</sup> AL Bozom I<sup>d</sup> Hussain K<sup>e</sup>Departments of <sup>a</sup>Neonatology <sup>b</sup>Endocrinology <sup>c</sup>Surgery and <sup>d</sup>Pathology, Hamad Medical Corporation Doha, State of Qatar, <sup>e</sup>Department of Endocrinology,Case Reportongenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycemia in infancy. It is characterized by the unregulated secretion of insulin from pancreatic β-cells in re-lation to blood glucose concentration. The most common form of CHI is associated with auto-somal recessive mutations in genes ABCC8 and KCNJ11, encoding the two subunits of the pan-creatic β-cell ATP sensitive potassium channel (KATP). When the disease presents in the neo-natal period, early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. Prenatal diagno-sis of CHI with a known mutation is a promising new avenue which will ensure early and appro-priate postnatal intervention and improved long term outcome. We report a case of neonatal CHI due to homozygous recessive mutation in the ABCC8 gene. The parents were asymptomatic carriers of ABCC8 gene. A review of literature and update on the genetics of the disease is pre-sented in this article. Glucose, Insulin, Hypoglycemia, Congenital hyperinsulinismCongenital Hyperinsulinism Sajjad ur Rahman1/10/2008 12:00:00 AM2/23/2009 12:00:00 AMsajjadjan@hotmail.com, Srahman4@hmc.org.qa2795100http://www.ijem.org/Default.aspx