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Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

Acta diabetologica - 1 Dec 2013

Grasso Valeria, Colombo Carlo, Favalli Valeria, Galderisi Alfonso, Rabbone Ivana, Gombos Sara, Bonora Enzo, Massa Ornella, Meschi Franco, Cerutti Franco, Iafusco Dario, Bonfanti Riccardo, Monciotti Carla, Barbetti Fabrizio

Abstract excerpt

Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they share many clinical features; however, while patients with DS usually die within 1 year of birth, individuals classified as RMS can reach adult age. INSR mutations...

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Identifiers

PMID: 23824322
DOI: 10.1007/s00592-013-0490-x

Genes

INSR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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