Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- short stature
- poor growth velocity
- short for target height
- absent pubertal growth spurt and/or delayed puberty
- central nervous system (suprasellar) tumour symptoms
- symptoms of other pituitary hormone dysfunction
- characteristic facial appearance
Other diagnostic factors
- assisted birth
- visual impairment
- associated dysmorphic features
- focal neurological deficits
- hyperphagia/obesity
- temperature dysregulation/sleep disorder
- behavioural problems
Risk factors
- family history of GHD
- other pituitary hormone deficiencies
- central nervous system (CNS) tumours/cysts
- radiotherapy
- 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
- thyroid function tests
- IGF1 and IGFBP3
- baseline pituitary function tests
- basic haematology and biochemistry screen
Investigations to consider
- GH provocation test
- MRI brain
- CT brain/x-ray skull
- full pituitary hormone evaluation
- specialist referral
- genetic studies
- random GH
Treatment algorithm
Contributors
Authors
Hoong-Wei Gan, BMedSci (Hons), BMBS, MSc, PhD, MRCPCH
Consultant Paediatric Endocrinologist
Great Ormond Street Hospital for Children NHS Foundation Trust
London
UK
Disclosures
HWG has received educational grants and had travel expenses and hospitality paid for by Ipsen and Novo Nordisk for international meetings. He has received lecture fees from Ipsen. HWG is Deputy Chair of the UK National Paediatric Craniopharyngioma Guideline Development Group and is an author of references cited in this topic.
Harshini Katugampola, BSc, MBBS, MSc, PhD, MRCPCH
Consultant Paediatric Endocrinologist
Great Ormond Street Hospital for Children NHS Foundation Trust
London
UK
Disclosures
HK is an author of references cited in this topic.
Acknowledgements
Dr Hoong-Wei Gan and Dr Harshini Katugampola would like to gratefully acknowledge Dr Ameeta Mehta, Professor Mehul T. Dattani, and Dr Kyriaki S. Alatzoglou, previous contributors to this topic.
Disclosures
AM is an author of references cited in this topic. MTD received lecture fees from Novo Nordisk, Pfizer, and Ipsen; consultancy fees from Novo Nordisk, Pfizer, Ipsen, and Sandoz; and was a member of a Novo Nordisk advisory board. Novo Nordisk, Pfizer, Ferring, Ipsen, Lilly, Merck, and Serono have made financial contributions to MTD's departmental teaching programme. MTD declared that none of these activities are related to this topic. MTD is an author of references cited in this topic. KSA is an author of references cited in this topic.
Peer reviewers
Martin Savage, MA, MD, FRCP, MRCPCH
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.
Paul Saenger, MD, MACE
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.
Guidelines
- Guidelines for management of growth hormone deficiency in adults and patients transitioning from pediatric to adult care
- Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency
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