The prevalence of paediatric growth hormone (GH) deficiency is estimated to be between 1 in 3500 and 1 in 4000 children. However, in about 50% of children the cause of growth hormone deficiency (GHD) is unknown (idiopathic growth hormone deficiency).

GHD in children may result from primary pituitary or hypothalamic disorders. Possible causes include:

• Idiopathic (most common aetiology when no organic cause is identified)
• Genetic abnormalities of GH production or GH releasing hormone (GHRH)
• Congenital malformations
• Abnormality of the pituitary/hypothalamus (most likely due to tumours, radiation treatment or injury)

When there is evidence of short stature (>2 SD below matched population mean), patients should be examined and history checked for factors that may indicate that GHD could be present:

• In the neonate: Hypoglycemia, prolonged jaundice, microphallus, or traumatic delivery
• Cranial irradiation
• Head trauma
• Central nervous system infection
• Consaguinity and/or affected family member
• Craniofacial midline abnomalities

• Less muscle bulk
• Short stature
• Increased body fat
• Abnormal height velocity
• Delayed bone age
• Normal skeletal proportions
• Small face and underdeveloped nasal bridge
• Increased skinfold thickness
• Small genitalia in boys

References