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

doi:10.1530/EDM-21-0114

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

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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 language	English
Article number	21-0114
Journal	Endocrinology, Diabetes and Metabolism Case Reports
Volume	2022
Issue number	1
DOIs	https://doi.org/10.1530/EDM-21-0114
Publication status	Published - Jan 2022

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10.1530/EDM-21-0114Licence: CC BY-NC-ND

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AU - Choong, Catherine S.

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

Abstract

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