Diagnosis & Tests

Restricted growth is diagnosed based on symptoms, measurement of height, family history and tests.

Achondroplasia

Restricted growth is diagnosed 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.

Medications are 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 would be lower than normal, indicating growth hormone deficiency.

Two growth hormone stimulation tests are usually required to diagnose growth hormone deficiency.

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 analyse chromosomes are used to diagnose some conditions.
  • Urine tests can confirm some enzyme deficiency disorders, such as mucopolysaccharide disease.
  • X-rays and biopsies of bone marrow or skin can help diagnose abnormalities that indicate certain conditions.

Diagnosis in Pregnancy

Diagnosis during pregnancy (also called prenatal diagnosis) may be offered to parents who have a genetic history of a condition that causes short stature. This is likely to involve chorionic villus sampling at around 10 weeks of pregnancy, or amniocentesis between 16 and 20 weeks.

Chorionic Villus Sampling involves removing and testing a small sample of cells from the placenta (the organ linking the mother’s blood supply with her unborn baby’s).  This is usually carried out by inserting a needle though the mother's tummy to reach the placenta.  It can also be done through the cervix although this is less common.