Overview
Rabson-Mendenhall syndrome is a severe form of insulin resistance caused by mutations in the insulin receptor gene, characterized by growth retardation, premature tooth eruption, absence of subcutaneous fat, acanthosis nigricans, and dysregulated glucose metabolism 1.Diagnosis
Clinical Features: Growth retardation, premature dentition, absence of subcutaneous fat, acanthosis nigricans, fasting hypoglycemia, and postprandial hyperglycemia 1.
Laboratory Tests: Extremely high circulating insulin levels (e.g., up to 8500 μU/mL), reduced insulin binding in fibroblasts (20-30% of control values) 1.
Genetic Testing: Identification of mutations in the insulin receptor gene 1.Management
Growth Hormone (GH) and Insulin-like Growth Factor-I (IGF-I): No significant effect on growth despite treatment with recombinant human GH and rhIGF-I 1.
Nutritional Support: Adequate nutrition is essential but insufficient to improve growth outcomes 1.Special Populations
Pediatrics: Growth retardation is a critical concern; interventions like GH and IGF-I have shown limited efficacy 1.Key Recommendations
Monitor Growth and Metabolic Parameters Closely: Regular assessment of growth parameters and glucose metabolism is crucial for managing complications 1 (Evidence: Moderate).
Consider Nutritional Support: Ensure optimal nutritional intake despite limited pharmacological efficacy 1 (Evidence: Moderate).
Avoid GH and IGF-I Therapy for Growth Stimulation: Current evidence suggests these treatments do not effectively improve growth in Rabson-Mendenhall syndrome 1 (Evidence: Weak).References
1 Longo N, Singh R, Griffin LD, Langley SD, Parks JS, Elsas LJ. Impaired growth in Rabson-Mendenhall syndrome: lack of effect of growth hormone and insulin-like growth factor-I. The Journal of clinical endocrinology and metabolism 1994. link