Last reviewed: November 2017
Last updated: June  2016

Summary

Definition

History and exam

Key diagnostic factors

  • short stature
  • poor growth velocity
  • short for target height
  • absent pubertal growth spurt ± delayed puberty
  • CNS (suprasellar) symptoms
  • characteristic facial appearance

Other diagnostic factors

  • assisted birth
  • neonatal complications
  • undescended testes/small penis
  • visual impairment
  • associated dysmorphic features
  • focal neurologic deficits
  • hyperphagia/obesity
  • temperature dysregulation/sleep disorder
  • behavioral problems

Risk factors

  • FHx of GHD
  • other pituitary hormone deficiency
  • CNS tumors/cysts
  • radiation therapy
  • midline abnormalities
  • CNS infiltrative disorders
  • perinatal complications
  • CNS trauma
  • pre-existing iron overload disorder
  • child abuse
  • CNS infections

Diagnostic investigations

1st investigations to order

  • x-ray wrist
  • TFTs
  • IGF1 and IGFBP3
Full details

Investigations to consider

  • GH provocation test
  • MRI brain
  • CT brain/x-ray skull
  • full pituitary hormone evaluation
  • specialist referral
  • genetic studies
  • random GH
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Ameeta Mehta

Paediatric Endocrinologist

London

UK

Disclosures

AM is an author of several references cited in this monograph.

Mehul T. Dattani

Professor of Paediatric Endocrinology

Consultant in Paediatric and Adolescent Endocrinology

Great Ormond Street Hospital for Children and

University College London Hospitals

London

UK

Disclosures

MTD is an author of several references cited in this monograph.

Dr Ameeta Mehta and Dr Mehul T. Dattani would like to gratefully acknowledge Kyriaki S. Alatzoglou, a previous contributor to this topic. KSA is an author of several references cited in this monograph.

Peer reviewers VIEW ALL

Professor of Paediatric Endocrinology (Emeritus)

Department of Endocrinology

William Harvey Research Institute

St Bartholomew's and the Royal London School of Medicine and Dentistry

John Vane Science Centre

London

UK

Disclosures

MS has received honoraria and consultancy payments from Ipsen, Pfizer, Novo Nordisk, and Merck Serono.

Professor of Pediatrics

Department of Pediatrics (Endocrinology)

Montefiore Medical Center

Albert Einstein College of Medicine

New York

NY

Disclosures

PS declares that he has no competing interests.

Use of this content is subject to our disclaimer