What is the Cause of Rabson-Mendenhall Syndrome?

Causes of Rabson-Mendenhall Syndrome Explained

Rabson-Mendenhall Syndrome (RMS) is a rare genetic disorder that falls under SIRS (severe insulin resistance syndrome). Normally, the body burns food to produce energy. Imagine your body not being able to do that. In RMS patients, insulin, the hormone that breaks down sugar to produce energy, doesn't work as it should.

They suffer from insulin resistance, which results in dangerously high blood sugar and other physical complications. Keep reading to learn about the causes of RMS, whether genetics matter, and its diagnosis and treatment.

What Causes Rabson-Mendenhall Syndrome (RMS)?

A mutation in the INSR (insulin receptor) gene is the underlying cause of Rabson-Mendenhall syndrome. This gene contains information on creating a protein called insulin receptors, and the mutation disrupts their function. Insulin receptors are present on the surface of cells, and insulin binds to them. The issue in RMS lies with the receptors, not the insulin.

The mutation causes the insulin receptors to malfunction. They either don't function properly or are entirely unresponsive to insulin. Thus, causing severe insulin resistance and high blood sugar in RMS patients.

Is Rabson-Mendenhall Syndrome (RMS) Inherited?

Robson-Mendenhall Syndrome is autosomal recessive. The patient must inherit two mutated INSR genes from both parents. So, here’s what can happen:

• Receiving a mutated gene from both mother and father: Affected
• Receiving one mutated and one normal gene from either parent: Carrier
• Receiving two normal genes: Unaffected

For this reason, we cannot prevent RMS.

What are the Symptoms of Rabson-Mendenhall Syndrome (RMS)?

Symptoms of RMS start appearing in the first year of life. In some cases, complications can be more severe than others. But the general symptoms and signs include:

• Rough skin, deep grooves in the tongue, large ears, nose, and lips.
• Acanthosis nigricans, the darkening and thickening of skin. A velvety feeling on the skin of the underarms and neck (under the folds of the skin).
• Abnormal growth of teeth and nails.
• Excess hair growth (hirsutism)
• Swelling in and around the belly
• Weak muscles

How is Rabson-Mendenhall Syndrome (RMS) Diagnosed?

Extremely high blood sugar levels are typical in people with RMS, and we know that it is autosomal recessive. So, at the early onset of the physical signs, infants are diagnosed by:

• Testing for blood sugar irregularities,
• Observation of symptoms,
• Genetic testing to detect a mutation in the INSR gene.

What are the Treatments for Robson-Mendenhall Syndrome (RMS)?

There is no cure for this condition. Since it comes with complications and physical symptoms, treatment for a better life is the only way.

The essential step in this treatment involves maintaining a stable blood glucose level. Treatments for high blood sugar (hyperglycemia) that have worked so far are:

• Leptin: It is a hormone produced by fat cells in the body to regulate appetite and metabolism. Appropriate dosage of human leptin has proven to improve insulin sensitivity in RMS patients.
• Biguanides: Medicines given to patients to reduce the formation of glucose in the body.
• rhIGF-I (recombinant human insulin-like growth factor I): A lab-made, synthetic hormone that enhances the action of insulin.

The rarity of a disease like Robson-Mendenhall Syndrome (RMS) makes its awareness and early diagnosis important. While there is no cure, symptom management and counseling play a key role in improving the lives of the affected. Ongoing research on rare diseases and gene therapy also offers hope for the future.

Managing symptoms and their treatments can often be costly. It helps to have health insurance to have your back. At Star Health, our insurance policies offer coverage for rare genetic medical conditions. We also provide hassle-free claim settlements with reduced turnaround time across over 14,000 network hospitals in India.