Diagnosis of growth hormone deficiency in the paediatric and transitional age. Issue 6 (December 2016)

• Record Type: Journal Article
• Authors: Chinoy, A.; Murray, P.G.
• Is Part Of: Best practice & research. Volume 30:Issue 6(2016)
• Page Start: 737
• Page End: 747
• Publication Date: 2016-12
• Subjects: growth hormone deficiency -- IGF-1 -- short stature; GH growth hormone -- GHD growth hormone deficiency -- iGHD isolated growth hormone deficiency -- MPHD multiple pituitary hormone deficiency -- SD standard deviation -- GHRH growth hormone releasing hormone -- MRI magnetic resonance imaging -- GHBP growth hormone binding protein -- BMI body mass index -- IGF-1 insulin-like growth factor-1 -- IGFBP-3 insulin-like growth factor binding protein-3 -- ESPE European Society for Paediatric Endocrinology; Endocrine glands -- Diseases -- Periodicals; Metabolism -- Disorders -- Periodicals; Endocrinology -- Periodicals; Metabolism -- Periodicals; 616.4
• DOI: 10.1016/j.beem.2016.11.002
• Languages: English
• ISSNs: 1521-690X

Abstract

Abstract : Growth hormone deficiency is a rare cause of childhood short stature, but one for which treatment exists in the form of recombinant human growth hormone. A diagnosis of growth hormone deficiency is made based on auxology, biochemistry and imaging. Although no diagnostic gold standard exists, growth hormone provocation tests are considered the mainstay of diagnostic investigations. However, these must be interpreted with caution in view of issues with variability and reproducibility, as well as the limited evidence-base for cut-off values used to distinguish growth hormone deficient and non-growth hormone deficient subjects. In addition, nutritional and pubertal status can affect results, with no consensus on the role of priming with sex steroid hormones. Difficulties with assays exist both for growth hormone as well as insulin-like growth factor-1. Pituitary magnetic resonance imaging is a useful diagnostic, and possibly prognostic, aid. Although genetic testing is not routine, the discovery of more relevant mutations makes it an increasingly important investigation. Children with growth hormone deficiency are retested biochemically on completion of growth, to assess whether they remain so into adulthood.