Management of Neonatal Isolated and Combined Growth Hormone Deficiency: Current Status

Congenital growth hormone deficiency (GHD) is a rare disease caused by disorders affecting the morphogenesis and function of the pituitary gland. It is sometimes found in isolation but is more frequently associated with multiple pituitary hormone deficiency. In some cases, GHD may have a genetic basis. The many clinical signs and symptoms include hypoglycaemia, neonatal cholestasis and micropenis. Diagnosis should be made by laboratory analyses of the growth hormone and other pituitary hormones, rather than by cranial imaging with magnetic resonance imaging. When diagnosis is confirmed, hormone replacement should be initiated. Early GH replacement therapy leads to more positive outcomes, including reduced hypoglycaemia, growth recovery, metabolic asset, and neurodevelopmental improvements.

Automated summary

Congenital growth hormone deficiency is a rare disease caused by disorders affecting the pituitary gland. It is often associated with multiple pituitary hormone deficiency and may have a genetic basis. Diagnosis should be made through laboratory analysis rather than magnetic resonance imaging. Early hormone replacement therapy leads to positive outcomes such as improved growth and metabolic function.