Incidence
Growth hormone deficiency is a rare cause of growth failure in which the child does not make enough growth hormone to grow normally. About one in 4000 to 10000 children have growth hormone deficiency.14
Causes
The causes of growth hormone deficiency may be congenital or acquired.14 Some children are born with growth hormone deficiency (congenital growth hormone deficiency) while others develop growth hormone deficiency in later childhood (acquired growth hormone deficiency).14 Congenital growth hormone deficiency may be caused by genetic defects or structural abnormalities of the pituitary gland.14 Acquired growth hormone deficiency may be the result of brain tumors, surgery or radiation therapy, inflammatory disease, or infection to brain.14 In about 50% of the children with growth hormone deficiency, the cause is unknown (idiopathic).15
Characteristics
Congenital growth hormone deficiency is associated with normal birth length, followed by a decrease in growth rate that becomes obvious by 1‒2 years of age. In infancy, congenital growth hormone deficiency can lead to low blood sugar (hypoglycaemia) and seizures.11 A child with growth hormone deficiency will be much shorter than most children of the same age and sex and have a flat or slow growth rate.5 Short stature may be the only feature present.16
Diagnosis
Growth hormone deficiency is diagnosed based on a combination of clinical assessment and growth measurements, blood tests to measure hormone levels, X-ray of the hand and wrist to assess bone age, tests for genetic mutations, and brain MRI to rule out pituitary abnormalities.16
Treatment
Patients with proven growth hormone deficiency should be treated with growth hormone replacement therapy as soon as possible after the diagnosis has been made.16