Advances in differential diagnosis and management of growth hormone deficiency in children

Camille Hage, Hoong Wei Gan, Anastasia Ibba, Giuseppa Patti, Mehul Dattani, Sandro Loche, Mohamad Maghnie, Roberto Salvatori

Research output: Contribution to journalReview articlepeer-review


Growth hormone (GH) deficiency (GHD) in children is defined as impaired production of GH by the pituitary gland that results in growth failure. This disease might be congenital or acquired, and occurs in isolation or in the setting of multiple pituitary hormone deficiency. Isolated GHD has an estimated prevalence of 1 patient per 4000–10,000 live births and can be due to multiple causes, some of which are yet to be determined. Establishing the correct diagnosis remains key in children with short stature, as initiating treatment with recombinant human GH can help them attain their genetically determined adult height. During the past two decades, our understanding of the benefits of continuing GH therapy throughout the transition period from childhood to adulthood has increased. Improvements in transitional care will help alleviate the consequent physical and psychological problems that can arise from adult GHD, although the consequences of a lack of hormone replacement are less severe in adults than in children. In this Review, we discuss the differential diagnosis in children with GHD, including details of clinical presentation, neuroimaging and genetic testing. Furthermore, we highlight advances and issues in the management of GHD, including details of transitional care.

Original languageEnglish (US)
Pages (from-to)608-624
Number of pages17
JournalNature Reviews Endocrinology
Issue number10
StatePublished - Oct 2021

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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