A Novel Mutation in the <i>INSR</i> Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

A Novel Mutation in the <i>INSR</i> Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

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 nigr...

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Bibliographic Details
Main Authors: Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Denisse Di Tore, Idoia Martínez de Lapiscina, Marco Janner, Christa E. Flück, Amit V. Pandey
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:International Journal of Molecular Sciences
Subjects:
Rabson–Mendenhall syndrome
insulin resistance
diabetes mellitus
acanthosis nigricans
tyrosine kinase
insulin
Online Access:https://www.mdpi.com/1422-0067/25/6/3143

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https://www.mdpi.com/1422-0067/25/6/3143

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