Congenital growth hormone deficiency

Congenital Growth Hormone Deficiency (CGHD) is a medical condition characterized by the inadequate production of growth hormone from birth. This condition is caused by genetic mutations or structural abnormalities in the pituitary gland, which is responsible for the production of growth hormone.

Causes

The primary cause of CGHD is mutations in the genes responsible for the production and regulation of growth hormone. These include the Growth Hormone 1 (GH1) gene and the Growth Hormone Releasing Hormone Receptor (GHRHR) gene. Structural abnormalities in the pituitary gland, such as hypoplasia or aplasia, can also lead to CGHD.

Symptoms

The most common symptom of CGHD is short stature. Other symptoms may include delayed puberty, increased fat around the waist and face, reduced muscle mass and strength, and a slower rate of hair and nail growth.

Diagnosis

Diagnosis of CGHD is typically made through a combination of physical examination, medical history, and laboratory tests. These tests may include blood tests to measure levels of growth hormone and other hormones, as well as imaging tests such as MRI to examine the structure of the pituitary gland.

Treatment

Treatment for CGHD typically involves growth hormone therapy, which involves regular injections of synthetic growth hormone. This treatment can help to increase height and improve body composition. In some cases, additional treatments may be needed to address other hormone deficiencies.

Prognosis

With early diagnosis and treatment, individuals with CGHD can achieve a near-normal adult height and live a healthy life. However, they may need to continue growth hormone therapy into adulthood.

See also

• Growth hormone
• Pituitary gland
• Growth hormone therapy