LEPTIN RECEPTOR (LEPR) DEFICIENCY
What causes LEPR deficiency?
- Insatiable hunger
- Severe, early-onset obesity
- Delayed puberty in adolescence (hypogonadotropic hypogonadismhypogonadotropic hypogonadism A rare disorder of delayed puberty that happens when levels of gonadotropin hormones (Gn) are too low, which leads to low levels of other key hormones like follicle-stimulating hormone (FSH) and luteinizing hormone (LH).)
LEPR deficiency is inherited in an autosomal recessive autosomal recessiveAutosomal recessive (AR) conditions occur when a person inherits two non-working copies of a disease-causing (pathogenic) gene variant from their parents. manner. This means that someone with LEPR deficiency will have two copies of the genetic variant genetic variant Changes (also known as variants) in the standard “spelling” of a gene. Gene variants can result in serious health problems or be “silent” with no negative health effects. that causes the disorder. You can only inherit an autosomal recessive disorder if both of your parents are a “carrier carrier In an autosomal recessive inheritance pattern, if an individual inherits one normal copy of a gene and one copy of a disease-causing variant, they are called a carrier and will generally not have any symptoms of the disease that variant causes.” for that disorder, meaning that they both carry one copy with the genetic variant and one copy without it.
In very rare cases, someone who is a carrier for LEPR deficiency (meaning they have just one disease-causing variant) may develop some of the symptoms of the disorder.
disease of obesity?
What treatment is available?
I think I may have a rare genetic disease of obesityWhere can I connect with people like me?