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.