ArticleCureus2025
Rabson-Mendenhall Syndrome Nearly Misdiagnosed as Type 1 Diabetes Mellitus: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.World journal of diabetes · 2026Article
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4 authors.
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Abstract
Rabson-Mendenhall syndrome (RMS) is a rare genetic condition marked by severe insulin resistance, leading to persistent hyperglycemia that can sometimes be misdiagnosed as type 1 diabetes mellitus (T1DM). This case report details a 34-year-old male who was referred to a tertiary center for genetic evaluation to rule out insulin resistance syndrome. The patient had been diagnosed with T1DM since childhood, struggling to control his hyperglycemia despite high doses of insulin. Physical examination revealed acanthosis nigricans, prognathism, and other dysmorphic features. Genetic testing identified pathogenic variants in the insulin receptor (INSR) gene, confirming the diagnosis of RMS. Insulin resistance syndromes are prone to misdiagnosis, so a thorough patient history and careful physical examination are essential in distinguishing T1DM from insulin resistance syndrome. This is the first documented case of RMS in Saudi Arabia, and we emphasize the clinical findings and genetic confirmation in this patient.
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