Growth Hormone Deficiency (Pediatric)

Definition

Growth hormone deficiency (GHD) in children is a condition characterized by inadequate production of growth hormone from the pituitary gland, resulting in impaired growth velocity, short stature, and delayed skeletal maturation.

Epidemiology

• Estimated prevalence: 1 in 4,000–10,000 children
• Both sexes are affected, though boys are more frequently diagnosed
• Can be congenital or acquired
• May be isolated or part of multiple pituitary hormone deficiencies
• Incidence higher in children with midline cranial defects or history of CNS tumors

Etiology

• Congenital: genetic mutations affecting GH1, GHRHR, or transcription factors (PROP1, POU1F1)
• Acquired: pituitary tumors, trauma, radiation therapy, infections, or autoimmune hypophysitis
• Idiopathic: no identifiable cause in some children
• Syndromic: associated with conditions such as Turner syndrome, Prader-Willi syndrome
• Structural brain abnormalities: septo-optic dysplasia, pituitary hypoplasia

Pathophysiology

• Insufficient GH secretion from anterior pituitary
• Reduced stimulation of hepatic insulin-like growth factor 1 (IGF-1) production
• Impaired linear growth and delayed bone age
• Altered body composition: increased fat mass, decreased lean body mass
• Delayed puberty if associated with multiple pituitary hormone deficiencies
• Secondary metabolic effects: dyslipidemia, decreased bone mineral density