A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide


  • Suhaimi Hussain Paediatric Department Hospital University Science Malaysia, School of Medical Sciences 16150 Kota Bharu Kelantan http://orcid.org/0000-0002-7164-3076
  • Sarah Flanagan Molecular Genetics Laboratory, Royal Devon and Exeter NHS Healthcare Trust, Exeter
  • Sian Ellard Molecular Genetics Laboratory, Royal Devon and Exeter NHS Healthcare Trust, Exeter


, congenital hyperinsulinism, PHHI, ABCC8 mutation, diazoxide, octreotide, KATP channel


A 2.4 kg baby boy born via Caesarian section at 35 weeks had the first onset of hypoglycemia at 2 hours of life. The infant required a glucose load of 30 mg/kg/min. Insulin level was 19.6 pmol/L (normal value 17.8-173.0) in the absence of ketosis. He was resistant to oral diazoxide but responded to octreotide infusion. The boy was found to be heterozygous for an ABCC8 nonsense mutation, p.R934*. We present our experience on the use of subcutaneous octreotide for 2 years for the treatment of diazoxide resistant congenital hyperinsulinism (CHI).


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Author Biography

Suhaimi Hussain, Paediatric Department Hospital University Science Malaysia, School of Medical Sciences 16150 Kota Bharu Kelantan

Paediatric Department

Senior Lecturer, Paediatrician, Paediatric Endocrinologist


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How to Cite

Hussain, S., Flanagan, S., & Ellard, S. (2016). A Case Report on Congenital Hyperinsulinism Associated with ABCC8 Nonsense Mutation: Good Response to Octreotide. Journal of the ASEAN Federation of Endocrine Societies, 31(2), 178. Retrieved from https://asean-endocrinejournal.org/index.php/JAFES/article/view/340



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