Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders

Martin O. Savage, Philippe F. Backeljauw, Raúl Calzada, Stefano Cianfarani, Leo Dunkel, Ekaterina Koledova, Jan M. Wit, Han Wook Yoo

Research output: Contribution to journalArticlepeer-review


Early diagnosis is a key objective in clinical medicine, and early detection of pathological short stature has tangible benefits for growth prognosis and the well-being of the child. Despite late diagnosis being common in growth disorders, programmes of height screening in primary care are not universal in developed countries and may be random or non-existent. A notable exception is automated growth monitoring in Finland, where an algorithm to detect abnormal growth is integrated into children's electronic health records, resulting in increased diagnoses of pathological short stature. Evidence-based anthropometric criteria for referral of short stature to secondary or tertiary care are now published, due largely to excellent studies in the Netherlands. Following referral of the short child, the protocol for laboratory investigations remains somewhat controversial because in healthy children their diagnostic yield can be too low for cost-effectiveness. However, outside of tertiary academic paediatric endocrinology centres, baseline screening tests are considered worthwhile and may speed up diagnosis and treatment. Finally, auxological cut-offs cannot replace good clinical practice, and the understanding that early and effective management depends on commitment to a diagnosis and individualisation of therapy in the short child cannot be overemphasised.

Original languageEnglish
JournalHormone Research in Paediatrics
Publication statusAccepted/In press - Apr 8 2016


  • Growth disorders
  • Growth hormone
  • Growth monitoring
  • Height screening
  • Short stature

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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