Growth hormone (GH) deficiency manifests differently according to the individual's developmental stage. During the paediatric period, one of the most prominent clinical features is chronic skeletal growth retardation. Clinical signs also depend on the cause (genetic, acquired or idiopathic), deficiency intensity and whether GH is the only pituitary-affected hormone or is combined with that of other pituitary hormones. Growing knowledge of the genetic basis of GH deficiency continues to provide us with useful information to further characterise mutation types and mechanisms for previously-described and new candidate genes. Despite these advances, a high proportion of GH deficiencies with no recognisable acquired basis continue to be labelled as idiopathic. The hormonal diagnoses continue to be a conundrum despite efforts to harmonise biochemical assays for GH and IGF-1 analysis, and the diagnosis based on the so-called GH secretion stimulation tests will prove to be of limited usefulness for predicting response to GH therapy.
|Journal||Revista Espanola de Pediatria|
|Publication status||Published - 1 Nov 2013|
- Chronic growth retardation
- GH Deficiency
- GH secretory stimuli
- Harmonic short stature