Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance

Elaine E. Sanderson, Mark Shah, Amanda J. Hooper, Damon A. Bell, Catherine S. Choong

Research output: Contribution to journalArticlepeer-review

Abstract

We report a case of an 11-year-old girl presenting with a new diagnosis of diabetes associated with a heterozygous missense mutation in the insulin receptor (INSR) gene. This case highlights that INSR gene variants can be a cause for monogenic diabetes in children and adolescents and the need for genetic evaluation in atypical presentations of diabetes. We also describe the possible role of metformin in treating individuals with type A insulin resistance syndrome due to INSR gene variants.

Original languageEnglish
Article number21-0114
JournalEndocrinology, Diabetes and Metabolism Case Reports
Volume2022
Issue number1
DOIs
Publication statusPublished - Jan 2022

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