A Focal Form of Diazoxide-Resistant Congenital Hyperinsulinism with Good Response to Long-Acting Somatostatin

Suhaimi Hussain; Sarah Flanagan; Nurshafinaz Salmah  Mohd Fezal

doi:10.15605/jafes.039.02.03

Authors

Suhaimi Hussain Universiti Sains Malaysia https://orcid.org/0000-0002-7164-3076
Sarah Flanagan University of Exeter https://orcid.org/0000-0002-8670-6340
Nurshafinaz Salmah Mohd Fezal Universiti Sains Malaysia

DOI:

https://doi.org/10.15605/jafes.039.02.03

Keywords:

congenital hyperinsulinism, hyperinsulinaemic hypoglycaemia, focal congenital hyperinsulinism, somatostatin

Abstract

A four-year-old female who was born term via spontaneous vaginal delivery with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6^th hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.

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Author Biographies

Suhaimi Hussain, Universiti Sains Malaysia

Associate Professor, Pediatric Endocrinologist

Sarah Flanagan, University of Exeter

Professor

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