Which are the symptoms of Rabson-Mendenhall Syndrome?

Symptoms of Rabson-Mendenhall Syndrome

Rabson-Mendenhall Syndrome (RMS) is an extremely rare genetic disorder that affects various systems in the body. It is characterized by insulin resistance, which leads to a range of symptoms and complications. Here are the key symptoms associated with Rabson-Mendenhall Syndrome:

1. Insulin Resistance:

Insulin resistance is the hallmark feature of Rabson-Mendenhall Syndrome. Individuals with RMS have a reduced ability to respond to insulin, a hormone that regulates blood sugar levels. This leads to persistent high blood sugar levels (hyperglycemia) despite the presence of insulin.

2. Hyperglycemia:

Due to insulin resistance, individuals with RMS experience chronic hyperglycemia. This can result in increased thirst, frequent urination, and unexplained weight loss. Hyperglycemia can also lead to fatigue, weakness, and blurred vision.

3. Growth and Developmental Abnormalities:

RMS can cause growth and developmental abnormalities in affected individuals. This may include short stature (shorter than average height), delayed puberty, and delayed bone age. Some individuals may also have intellectual disabilities or developmental delays.

4. Acanthosis Nigricans:

Acanthosis nigricans is a skin condition commonly seen in individuals with RMS. It is characterized by thickened, darkened, and velvety skin in certain areas of the body, such as the neck, armpits, and groin. This skin condition is often an early sign of insulin resistance.

5. Dental Abnormalities:

Individuals with RMS may exhibit dental abnormalities such as delayed tooth eruption, missing teeth, or abnormal tooth development. These dental issues can contribute to difficulties in chewing and maintaining oral hygiene.

6. Hypertrichosis:

Hypertrichosis, or excessive hair growth, is another common symptom of RMS. Affected individuals may have increased hair growth on various parts of the body, including the face, arms, and back.

7. Other Symptoms:

In addition to the above-mentioned symptoms, individuals with Rabson-Mendenhall Syndrome may also experience enlarged genitals (in males), enlarged breasts (in females), enlarged liver, enlarged kidneys, and recurring infections due to compromised immune function.

Rabson-Mendenhall Syndrome is a complex disorder with a wide range of symptoms that can vary in severity among affected individuals. Early diagnosis and management of the condition are crucial to minimize complications and improve quality of life.