Growth Hormone Insensitivity (GHI) with Immunodeficiency

What is growth hormone insensitivity (GHI) with immunodeficiency?

Growth hormone insensitivity (GHI) with immunodeficiency is an extremely rare genetic disorder characterized by the body’s inability to use the growth hormone it produces with an associated lack of natural immunity to infection.

What are the symptoms of GHI with immunodeficiency?

There are a wide variety of symptoms associated with GHI with immunodeficiency. These symptoms include:

Abnormal face shape
Abnormally small head (microcephaly)
Low birth weight and size
Everted (pouting) lower lip
Thin upper lip
Delayed intellectual development
Hearing loss
Short physical stature
Hypoglycemia (low blood sugar)
Delayed puberty
Delayed tooth eruption
Abnormally small hands and feet
Adulthood obesity
Frequent infection with delayed healing

What causes GHI with immunodeficiency?

GHI with immunodeficiency is an inherited genetic disorder caused by defects in the GHR gene as well as the STAT5b gene specifically. This disorder must be inherited from both parents to be present.

Are there treatment options available for GHI with immunodeficiency?

There is no cure for this disease. Treatment is directed at promoting growth. These treatment options include:

Daily injections of mecasermin, a hormone to promote growth of bones, cells and organs
Dietary adjustments to ensure adequate calorie intake
Prevention and early treatment of infections.

Where can I find more information about GHI with immunodeficiency?