---
title: "Recognition of Rabson-Mendenhall Syndrome in Primary Care Despite Atypical Diabetic Presentation"
id: "pubmed-42700438"
canonical_url: "https://medichelpline.com/clinical-feed/pubmed-42700438"
content_type: "clinical_feed_article"
specialty: "Pharmacology"
source_name: "PubMed / NCBI"
source_url: "https://pubmed.ncbi.nlm.nih.gov/42700438/"
doi: "10.12659/AJCR.953067"
published_at: "2026-09-05T00:00:00.000Z"
evidence_level: "Journal Article"
license: "CC-BY-NC-4.0 / Informational Use"
---
# Recognition of Rabson-Mendenhall Syndrome in Primary Care Despite Atypical Diabetic Presentation
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/pubmed-42700438
- **Specialty:** [Pharmacology](https://medichelpline.com/clinical-feed/pharmacology.md)
- **Primary Source:** PubMed / NCBI
- **Source URL:** [Original Journal Publication](https://pubmed.ncbi.nlm.nih.gov/42700438/)
- **DOI:** [10.12659/AJCR.953067](https://doi.org/10.12659%2FAJCR.953067)
- **Published At:** 2026-09-05T00:00:00.000Z
- **Evidence Rating:** Journal Article
## Executive GIST (TL;DR)
- Rabson-Mendenhall syndrome (RMS) is an extremely rare autosomal recessive disorder caused by pathogenic variants in the **insulin receptor** gene, producing severe insulin resistance and compensatory **hyperinsulinemia**. - Classical RMS features include **acanthosis nigricans**, non-obese or underweight habitus, hirsutism, dental abnormalities, dysmorphic features, and variable growth abnormalities; initial presentations can be non-specific. - The reported case is a 10-year-old girl who presented to primary care with intermittent bilateral leg pain and excessive hunger, but without typical diabetic symptoms such as polyuria or polydipsia. - Physical exam revealed extensive acanthosis nigricans, moderate hirsutism, deep voice, high-arched palate, and dental enamel defects; growth assessment was complicated by familial tall stature. - Laboratory results showed marked hyperinsulinemia (insulin 3522.5 µU/mL), elevated HbA1c (8.4% / 68 mmol/mol), and biochemical hyperandrogenism, supporting severe insulin resistance. - Whole-exome sequencing identified a homozygous pathogenic insulin receptor variant (c.433C>T, p.Arg145Cys), confirming the diagnosis of RMS. - Management included vitamin D supplementation, **metformin**, basal-bolus insulin therapy, dapagliflozin, home glucose monitoring, diabetes education, dietary counseling, and multidisciplinary follow-up. - Glycemic control remained suboptimal despite intensified therapy, reflecting receptor-level insulin resistance inherent to RMS. - The case emphasizes that marked acanthosis nigricans, severe hyperinsulinemia, hyperglycemia, and hyperandrogenic features should prompt evaluation for genetic insulin resistance syndromes even when classical diabetic symptoms are absent. - The report highlights the role of primary care clinicians in recognizing phenotypic clues and initiating investigation and multidisciplinary management for rare genetic insulin resistance disorders.
## Clinical Analysis & Structured Key Points
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Affiliations Expand ### Affiliations * 1 Department of Family Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. * 2 College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. * PMID: **42700438** * DOI: [ 10.12659/AJCR.953067 ](https://doi.org/10.12659/ajcr.953067) Item in Clipboard Case Reports # Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms Abdullah Al Eisa et al. Am J Case Rep. 2026. Show details Display options Display options Format Abstract PubMed PMID Am J Case Rep Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Am+J+Case+Rep%22%5Bjour%5D&sort=date&sort_order=desc) * [ Search in NLM Catalog ](https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Case+Rep%22%5BTitle+Abbreviation%5D) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42700438/) . 2026 Sep 5:27:e953067. doi: 10.12659/AJCR.953067. ### Authors [Abdullah Al Eisa](https://pubmed.ncbi.nlm.nih.gov/?term=Al+Eisa+A&cauthor_id=42700438)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42700438/#short-view-affiliation-1 "Department of Family Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia."), [Atheer Humoud Aldayhani](https://pubmed.ncbi.nlm.nih.gov/?term=Aldayhani+AH&cauthor_id=42700438)[ 2 ](https://pubmed.ncbi.nlm.nih.gov/42700438/#short-view-affiliation-2 "College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.") ### Affiliations * 1 Department of Family Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. * 2 College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. * PMID: **42700438** * DOI: [ 10.12659/AJCR.953067 ](https://doi.org/10.12659/ajcr.953067) Item in Clipboard Cite Display options Display options Format Abstract PubMed PMID ## Abstract BACKGROUND Rabson-Mendenhall syndrome (RMS) is an extremely rare autosomal recessive disorder caused by pathogenic variants in the insulin receptor gene, leading to severe insulin resistance and compensatory hyperinsulinemia. Classical features include acanthosis nigricans, non-obese or underweight body habitus, hirsutism, dental abnormalities, dysmorphic features, and variable growth abnormalities. Early recognition may be difficult when the initial presentation is dominated by non-specific symptoms rather than classical metabolic complaints. CASE REPORT A 10-year-old Saudi girl presented to a family medicine clinic with intermittent bilateral leg pain and excessive hunger, without polyuria or polydipsia. Examination revealed extensive acanthosis nigricans, moderate hirsutism, deep voice, high-arched palate, and dental enamel defects. Laboratory evaluation showed severe hyperinsulinemia with insulin level of 3522.5 µU/mL, elevated HbA1c of 8.4% (68 mmol/mol), and biochemical hyperandrogenism. Although RMS is classically associated with growth restriction, the patient was tall for age and had a family history of tall stature, requiring cautious interpretation of growth-related findings. Whole-exome sequencing confirmed a homozygous pathogenic insulin receptor variant (c.433C>T, p.Arg145Cys), establishing the diagnosis of RMS. Treatment included vitamin D supplementation, metformin, basal-bolus insulin therapy, dapagliflozin, home glucose monitoring, diabetes education, dietary counseling, and multidisciplinary follow-up. Glycemic control remained suboptimal despite treatment intensification, reflecting the severe receptor-level insulin resistance associated with RMS. CONCLUSIONS In this patient, marked acanthosis nigricans, severe hyperinsulinemia, hyperglycemia, and hyperandrogenic features supported evaluation for a genetic insulin resistance syndrome despite the absence of classical diabetic symptoms. 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