Dwarfism - Diagnosing restricted growth

A diagnosis of restricted growth (dwarfism) is based on symptoms, measurement of height, family history and tests.

Proportionate short stature may not be noticeable until childhood or adolescence.

Diagnosing growth hormone deficiency

Growth hormone deficiency is usually diagnosed using growth hormone stimulation tests.

Medicine is injected into a vein to cause growth hormone levels in the blood to increase. If the pituitary gland is not working properly, growth hormone levels will be lower than normal, indicating growth hormone deficiency. 

Two growth hormone stimulation tests are usually required to diagnose growth hormone deficiency. A scan of the brain is necessary to look at the pituitary gland if blood tests show low levels of growth hormone being produced.

Diagnosing a condition that causes restricted growth

Conditions that cause disproportionate short stature are often diagnosed at birth. However, in some cases they may be diagnosed later. For example, pseudoachondroplasia is often diagnosed at around three years of age.

Generally, the following tests are used to diagnose a condition that causes short stature:

• Blood tests – to check for evidence of any liver, kidney and bone problems or malnutrition. Blood tests can also be used to analyse chromosomes, which can help to diagnose some conditions, such as Turner syndrome. 
• Urine tests can confirm some enzyme deficiency disorders, such as mucopolysaccharide disease.
• Imaging tests such as X-rays or MRI scans check for abnormalities in the bones or pituitary gland, which may indicate growth hormone deficiency
• Biopsies of bone marrow or skin can help diagnose abnormalities that indicate certain conditions.