Year: 2025
Type: article
Study design: Case Report
Abstract: Hypoglycemia in people without diabetes can be caused by a variety of factors and may become life-threatening if compensatory mechanisms are overwhelmed. We present a case of postprandial hypoglycemia associated with a heterozygous insulin receptor (INSR) gene variant, G1146R, in an 82-year-old Caucasian man with glucose intolerance and an extensive family history of similar symptoms. His hypoglycemia worsened with advancing age and eventually required a continuous blood glucose sensor with alarms to avoid severe hypoglycemia. This INSR variant is predicted to disrupt the autophosphorylation function of the receptor and was previously reported in an individual with severe insulin resistance presenting in childhood, but who did not experience hypoglycemia. This case highlights the clinical variability of INSR gene variants and may lead to reclassification of G1146R INSR, currently a variant of uncertain significance, as a likely pathogenic variant.
Source: JCEM Case Reports
Authors: Lauraliz Delacruz, Lindsay J Adamczak, Olga Astapova
Institutions: University of Rochester Medicine, University of Rochester
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $930
OpenAlex ID: W4415641622