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

Suhaimi Hussain, Sarah Flanagan, Sian Ellard
2016 Journal of the ASEAN Federation of Endocrine Societies  
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
more » ... he treatment of diazoxide resistant congenital hyperinsulinism (CHI) . ÊÊ 178 www.asean-endocrinejournal.org ONLINE FIRST | October 19, 2016 | https://doi. Abstract 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) .
doi:10.15605/jafes.031.02.16 fatcat:em4s2rgeubdyjmtrixq2m5ty7q