Leptin Receptor Deficiency
What is leptin receptor deficiency?
Leptin receptor deficiency is a rare disorder characterized by hyperphagia that causes obesity. Affected individuals are born at a normal weight, but quickly become obese to due chronic excessive eating.
What are the symptoms of leptin receptor deficiency?
Extreme, constant hunger is the major symptom of this condition, and it leads to hyperphagia. Affected individuals will develop atypical eating habits in childhood, such as eating in secret, fighting over food, and hoarding food. This leads to obesity.
Hypogonadotropic hypogonadism is another symptom of this condition, although it may not impact all affected individuals. It causes either delayed puberty or stops puberty entirely, and it may lead to infertility.
What causes leptin receptor deficiency?
A mutated LEPR gene causes leptin receptor deficiency. It is inherited in an autosomal recessive pattern. This gene is responsible for the leptin receptor, which plays a role in regulating body weight. Essentially, the mutation causes the receptor to be unable to respond to leptin, leading to the characteristic symptoms of the disorder.
How is leptin receptor deficiency diagnosed?
Doctors may suspect this condition after noticing the characteristic symptoms. To confirm, they will order a blood test for genetic testing.
What are the treatments for leptin receptor deficiency?
Treatment for this condition consists of subcutaneous injections of human leptin every day. While this treatment is effective and produces positive effects, not all affected individuals have access to it due to misdiagnosis or lack of diagnosis.
Where can I find out more about leptin receptor deficiency?
Leptin Receptor Deficiency Articles
Researchers Observe First Cases of Congenital Leptin Deficiency in the Americas
What More Can Be Learned from the Obesity Gene? People with Congenital Leptin Deficiency Want to Know
