Growth hormone deficiency is a congenital or an acquired growth hormone axis disruption in the higher brain, hypothalamus or pituitary which results in short stature.
It may occur at any age.
Short stature is often the only feature present in patients with growth hormone deficiency and other causes of subnormal growth rate.
Etiology may be congenital conditions (eg defective pituitary development that leads to pituitary aplasia, empty sella, encephalocele, midline defects) or acquired conditions (eg tumors of the hypothalamic-pituitary region, cranial irradiation, infiltrative disease).


  • Growth hormone deficiency (GHD) is a congenital or an acquired growth hormone (GH) axis disruption in the higher brain, hypothalamus or pituitary which results in short stature
  • May occur at any age


Congenital Conditions

  • Defective pituitary development that leads to pituitary aplasia/hypopituitarism
  • Empty sella
  • Encephalocele
  • Midline defects
  • Septo-optic dysplasia
  • Panhypopituitarism
  • Genetic abnormalities

Acquired Conditions

  • Tumors of the hypothalamic-pituitary region
  • Cranial irradiation
  • Infiltrative diseases
  • Trauma
  • Hypoxic insult
  • CNS infections

Signs and Symptoms

  • Variable & depends on the age of onset
    • Noticeable slow growth/short stature (standard height deviation score usually below -2) with normal body proportions
    • Growth failure after a period of normal growth [child with growth hormone deficiency (GHD) may grow normally until about 2-3 years old]; then, signs of growth delay begin to show
    • Hypoglycemia, prolonged jaundice or microphallus (for males) in neonates
    • Frontal bossing, midfacial hypoplasia (saddle-shaped nasal bridge)
    • Delayed dentition
    • Delayed puberty
    • Fat dimpling & truncal adiposity
    • Excessive thirst & urination, increased urine volume
    • Symptoms of a mass lesion in the hypothalamic-pituitary region (eg headaches, visual disturbances)
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