Patient will present as → a 3-year-old male who is brought to your office by his mother who is concerned that he is not growing appropriately. Physical examination is notable for frontal bossing and shortened upper and lower extremities. His axial skeleton appears normal. He is at the 4th percentile for height and 95th percentile for head circumference. He demonstrates normal intelligence and is able to speak in three-word sentences. He first sat up without support at twelve months and started walking at 24 months. Labs reveal decreased GH and decreased IGF1.
Pituitary dwarfism, or growth hormone deficiency, is a condition in which the pituitary gland does not make enough growth hormone. This results in a child's slow growth pattern and an unusually small stature (below average height).
- Growth hormone secretion can be decreased in adults, resulting in increased fat and decreased muscle mass, but this will not affect bone growth.
Growth hormone (GH) deficiency can occur in isolation or in association with generalized hypopituitarism
- Causes include congenital (including genetic) disorders and a number of acquired disorders of the hypothalamus and/or pituitary.
GH deficiency causes short stature; numerous other manifestations may be present depending on the cause
Serial measurements > 2.5 deviations below the normal mean should prompt growth hormone evaluation. Rule out other causes. Diagnosis can be confirmed by low levels of insulin-like growth factor-1 and insulin-like growth factor binding protein-3.
Labs: ↓ GH, ↓ IGF1
BONE AGE: The primary symptom of pituitary dwarfism is lack of height. Therefore, a change in the individual's growth habits will help lead to a diagnosis. X-ray the child's hand to determine the child's bone age by comparing this to the child's actual chronological age.
- The bone age in affected children is usually two years or more behind the chronological age. This means that if a child is ten years old, his or her bones will look like they are those of an eight-year-old child. The levels of growth hormone and somatomedin C must also be measured with blood tests.
CT or MRI of the brain to evaluate for cause
If dwarfism is due to decreased human growth hormone, and not due to a primary skeletal disorder, the child can be treated with human growth hormone treatments to try and stimulate normal growth.
Surgery may be necessary to remove a pituitary adenoma if that is the cause of the dwarfism.
- Complications: Poorly developed organs including the heart, impaired sexual maturation, kyphosis, arthritis, sleep apnea, spinal stenosis, motor delays, ear infections, hearing loss.
- Children with short stature and documented GH deficiency should receive recombinant GH; other manifestations of hypopituitarism are treated as needed
familial short stature
constitutional delay of growth
bone age is normal in both familial short stature and constitutional delay of growth
bone age is normal in familial short stature and delayed in constitutional delay of growth
bone age is normal in constitutional delay of growth and delayed in growth hormone deficiency
bone age is delayed in both familial short stature and short stature caused by hypothyroidism
bone age is variable and cannot be used to differentiate familial short stature and constitutional delay