Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.
Abdullah Al Eisa, Atheer Humoud Aldayhani
✦ AI-curated · Sources linked
Case in brief
A 10-year-old girl presented with intermittent bilateral leg pain and excessive hunger, lacking classical diabetic symptoms. Examination revealed extensive acanthosis nigricans, moderate hirsutism, and dental defects. Laboratory tests showed severe hyperinsulinemia and elevated HbA1c. Whole-exome sequencing confirmed a pathogenic variant in the insulin receptor gene, diagnosing Rabson-Mendenhall syndrome. Despite treatment, glycemic control remained suboptimal due to severe insulin resistance.
What made this case unusual
The patient exhibited tall stature, which is atypical for Rabson-Mendenhall syndrome, complicating the interpretation of growth-related findings.
Diagnostic / clinical pearl
Clinicians should consider genetic insulin resistance syndromes like Rabson-Mendenhall syndrome in patients with severe hyperinsulinemia and atypical features, even in the absence of classical diabetic symptoms.
Why it matters
Early recognition of such syndromes can lead to appropriate management strategies, improving patient outcomes despite the challenges posed by atypical presentations.