Abstract

Aim: To survey the investigation of short stature in Wales and suggest guidelines to improve practice.

Methods: Questionnaires were circulated to paediatricians and consultant clinical biochemists or consultant chemical pathologists at 13 Welsh hospitals where children with short stature are investigated.

Results: A 100% response was obtained from laboratory and clinical staff. Clinicians screened 1–50 patients each year (median, 10). Growth hormone (GH) deficiency was subsequently diagnosed in 0–30% (median, 10%) and GH treatment started in 30–100% (median, 100%) of patients. Five paediatricians and eight laboratories had written investigative protocols. Investigation of GH secretion was initiated in some centres before a complete clinical evaluation was carried out. Various screening tests for GH deficiency, including insulin-like growth factor 1 (IGF-1), random GH, and exercise tests were used. The clonidine stimulation test was used to assess the GH axis in most centres but eight different protocols were described. GH was measured in four Welsh laboratories using two automated immunoassay methods. However, nine different ranges of cutoff values for defining abnormal GH responses were quoted, and in three centres laboratories and paediatricians quoted different cutoffs.

Conclusion: This survey demonstrates the need for practical guidelines for the investigation and management of short stature in children, agreed by paediatricians and their laboratory colleagues. The guidelines should encompass the initial clinical investigation, assessment of the GH–IGF-1 axis (using standardised protocols), and provision for the transition to adult management. This article presents practical guidelines based on published points for good practice.