International Journal of Molecular Sciences (Jun 2023)

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

  • Stefano Stagi,
  • Maria Tufano,
  • Nicolò Chiti,
  • Matteo Cerutti,
  • Alessandra Li Pomi,
  • Tommaso Aversa,
  • Malgorzata Wasniewska

DOI
https://doi.org/10.3390/ijms241210114
Journal volume & issue
Vol. 24, no. 12
p. 10114

Abstract

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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.

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