Article
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.
International journal of molecular sciences - 8 Mar 2024
Rojas Velazquez Maria Natalia, Blanco Fabiola, Ayala-Lugo Ana, Franco Lady, Jolly Valerie, Di Tore Denisse, Martínez de Lapiscina Idoia, Janner Marco, Flück Christa E, Pandey Amit V
Abstract excerpt
Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder characterized by severe insulin resistance, resulting in early-onset diabetes mellitus. We report the first case of RMS in a Paraguayan patient. The patient is a 6-year-old girl who presented with hypertrichosis, acanthosis nigricans, nephrocalcinosis, and elevated levels of glucose and insulin that served as diagnostic indicators for RMS....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.