Leptin Receptor Deficiency Obesity

What is Leptin Receptor Deficiency Obesity?

Leptin receptor deficiency obesity (LRD-O) is a rare autosomal recessive disorder that is caused by mutations in the leptin receptor gene. It is characterized by early onset sensorineural deafness accompanied by hyperphagic obesity, an increased risk for psychiatric symptoms such as developmental delay, irritability and increased susceptibility to infections.

The syndrome is most prevalent among populations of Moroccan Jews, and although the condition has been reported in other populations, it is much less common. It is estimated that LRD-O affects 1 in every 20,000 individuals.

Symptoms of Leptin Receptor Deficiency Obesity

The most common symptom of LRD-O is obesity. It is a hyperphagic obesity, which means that the individual with the condition has an insatiable appetite that cannot be satisfied. Other symptoms include:

• Sensorineural hearing loss.
• Low levels of energy.
• Depressive and/or anxiety-like symptoms.
• Skin rash.
• Increased susceptibility to infections.
• Growth retardation.
• Delayed development.
• Delayed puberty.
• Intellectual disability.
• In some cases, diabetes mellitus.

Diagnosis and Treatment

Leptin receptor deficiency obesity is diagnosed through a series of blood tests and genetic tests to look for mutations in the leptin receptor gene. Treatment of LRD-O typically includes a combination of dietary changes to reduce weight gain, medications to help control appetite and behaviour, and physical therapy to improve coordination and strength. In addition, annual audiometric tests are recommended to monitor hearing loss.

Conclusion

Leptin receptor deficiency obesity is a rare condition that is caused by mutations in the leptin receptor gene. It is characterized by early onset sensorineural deafness accompanied by hyperphagic obesity, developmental delay, and increased susceptibility to infections. Diagnosis is typically done through blood tests and genetic tests, and treatment includes dietary changes, medications, and physical therapy.