ACTH is a hormone produced by the small adrenal glands located on the top of the kidneys. Reduced ACTH levels cause a condition called adrenal insufficiency. In individuals with POMC deficiency, adrenal insufficiency often results in extended periods of extremely low blood sugar (hypoglycemia).
A skin condition characterized by patches of darkened (light brown to black), thickened, velvety skin in the body’s folds and creases. These patches may be found in the neck, armpits, groin, or other places on the body.
Growth hormone deficiency is a condition where the body does not have enough of the hormone that helps us grow. Many factors, including genetics, can cause this condition. When it begins in adolescence, it is known as adolescent-onset growth hormone deficiency.
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.
An eye condition that causes light-sensing cells called cones and rods in the retina (the back part of the eye) to deteriorate, leading to progressive vision loss. In people with cone-rod dystrophy, cones typically break down before the rods, causing sensitivity to light and impaired color vision to be the first type of vision loss. When the rods begin deteriorating, night vision is disrupted. This condition is similar to rod-cone dystrophy but differs in the order of vision loss.
The endocrine system is made of organs, glands, and hormones that tell the body how to do its job. This system influences how your heart beats, how you use the food you eat, how you grow, and many other important body functions. An endocrine abnormality means that one or more parts of the system is not working the way it should.
A healthcare provider with in-depth training in genetic science and counseling who helps people understand complicated genetic topics and adapt to the medical, emotional, and familial implications of genetic diseases.
Insatiable hunger, which is a deep hunger that doesn’t go away — it can feel like your hunger is stuck in the “on” position, even after eating. Common experiences include intense hunger that doesn’t go away, taking a longer time to feel full while eating, feeling hungry again right after a meal, thinking about food constantly, constantly looking for food (night eating, stealing food, eating discarded food), and becoming very upset when food is unavailable.
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).
A small part of the brain that has an important role in controlling many bodily functions, including the release of hormones from the pituitary gland. This is where the MC4R pathway is located.
An eye condition that causes light-sensing cells called cones and rods in the retina (the back part of the eye) to deteriorate, leading to a progressive vision loss. In people with rod-cone dystrophy, rods typically break down before cones, causing night vision to be the first type of vision lost. When the cones begin to deteriorate, daylight and color vision are affected. Retinitis Pigmentosa is one of the most common forms of rod-cone dystrophy. This condition is similar to cone-rod dystrophy but differs in the order of type of vision lost.
A variant in a gene that may or may not cause health issues, but there is not enough information available to know for sure. This variant may be recategorized as “benign” or “disease-causing” as more information becomes available.