Rabson-Mendenhall syndrome is an extremely rare genetic disorder characterized by severe insulin resistance, leading to abnormalities in glucose metabolism and various other clinical features. Here's a breakdown of each aspect.
Severe Insulin Resistance: The hallmark feature of Rabson-Mendenhall syndrome is profound insulin resistance, which leads to persistent hyperglycemia (high blood sugar levels) despite high levels of insulin in the blood.
Growth Retardation: Children with Rabson-Mendenhall syndrome typically experience slow growth and short stature.
Characteristic Facial Features: Some individuals may have distinctive facial features, including prominent eyes, broad nasal bridge, thick lips, and large ears.
Dental Abnormalities: Dental anomalies, such as delayed tooth eruption, small or malformed teeth, and dental caries, may be present.
Other Features: Additional features may include acanthosis nigricans (dark, velvety skin patches), enlarged liver (hepatomegaly), enlarged ovaries in females (polycystic ovaries), and delayed development of secondary sexual characteristics.
Management of Hyperglycemia: Treatment aims to control blood sugar levels through a combination of dietary modifications, exercise, and medications. However, individuals with Rabson-Mendenhall syndrome often have a poor response to conventional diabetes treatments due to severe insulin resistance.
Insulin Therapy: Despite insulin resistance, some individuals may still benefit from high doses of insulin therapy to manage hyperglycemia.
Multidisciplinary Care: Because Rabson-Mendenhall syndrome affects multiple organ systems, comprehensive medical care involving endocrinologists, geneticists, pediatricians, and other specialists is essential. Treatment plans should be tailored to address individual symptoms and complications.
Genetic Counseling: Genetic counseling may be offered to affected individuals and their families to provide information about the genetic basis of the condition, inheritance patterns, and reproductive options.
Clinical Evaluation: Diagnosis of Rabson-Mendenhall syndrome is based on clinical features, including severe insulin resistance, characteristic facial features, growth retardation, and other associated abnormalities.
Genetic Testing: Molecular genetic testing can confirm the diagnosis by identifying mutations in the insulin receptor gene (INSR) responsible for Rabson-Mendenhall syndrome.
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