What is growth hormone deficiency?

Growth hormone deficiency (GHD), also known as dwarfism or pituitary dwarfism, is a condition caused by insufficient amounts of growth hormone in the body. Children with GHD have abnormally short stature with normal body proportions. GHD can be present at birth (congenital) or develop later (acquired). The condition occurs if the pituitary gland makes too little growth hormone. It can be also the result of genetic defects, severe brain injury or being born without a pituitary gland. In some cases, there is no clear cause identified. Sometimes, GHD can be associated with lower levels of other hormones, such as vasopressin (which controls water production in the body), gonadotropins (which controls the production of male and female sex hormones), thyrotropins (which control the production of thyroid hormones) or adrenocorticotrophic hormone (which controls the adrenal gland and related hormones). 

Symptoms

• Slow growth or absence of growth

• Short stature (below the fifth percentile compared to other children of the same age and sex)

• Absent or delayed sexual development during puberty 

• Headaches

Symptoms of other pituitary hormone deficiencies that may co-exist with growth hormone deficiency:

• Absent or delayed sexual development during puberty

• Increased urination and amount of urine

• Excessive thirst

• Facial abnormalities can be present in a small group of children with GHD, typically caused by pituitary defects.

Diagnosis

A physical exam and measurement of height, weight, arms and leg lengths are the first steps to diagnosis, in addition to thorough medical history. Blood tests to measure the levels of growth hormone in the body as well as the levels of other hormones. Imaging tests including X-rays and MRI of the head may be helpful in narrowing down the underlying disorder causing GHD by revealing abnormalities of the hypothalamus or the pituitary glands. 

Treatment

Some cases of GHD can be treated with the use of synthetic growth hormone under the supervision of a pediatric endocrinologist. If other hormone deficiencies exist, other hormones can be given in addition to synthetic growth hormone.