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

Hage, C; Gan, H-W; Ibba, A; Patti, G; Dattani, M; Loche, S; Maghnie, M; (2021) Advances in differential diagnosis and management of growth hormone deficiency in children. Nature Reviews Endocrinology , 17 (10) pp. 608-624. 10.1038/s41574-021-00539-5. Green open access

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Abstract

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.

Type: Article
Title: Advances in differential diagnosis and management of growth hormone deficiency in children
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41574-021-00539-5
Publisher version: https://doi.org/10.1038/s41574-021-00539-5
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: STALK INTERRUPTION SYNDROME, SEPTO-OPTIC DYSPLASIA, LONG-TERM MORTALITY, HYPOTHALAMIC-PITUITARY AXIS, CAPITAL FEMORAL EPIPHYSIS, IDIOPATHIC SHORT STATURE, ONSET GH DEFICIENCY, BONE-AGE, FACTOR-I, PREPUBERTAL CHILDREN
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10138371
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