Summary
Definition
History and exam
Key diagnostic factors
- parental consanguinity
- short stature
- poor growth velocity
- short for target height
- absent pubertal growth spurt ± delayed puberty
- central nervous system (suprasellar) tumor symptoms
- symptoms of other pituitary hormone dysfunction
- characteristic facial appearance
Other diagnostic factors
- assisted birth
- visual impairment
- associated dysmorphic features
- focal neurologic deficits
- hyperphagia/obesity
- temperature dysregulation/sleep disorder
- behavioral problems
Risk factors
- family history of GHD
- other pituitary hormone deficiencies
- central nervous system (CNS) tumors/cysts
- radiation therapy
- midline abnormalities
- CNS infiltrative disorders
- perinatal complications
- CNS trauma
- preexisting iron overload disorder
- child abuse
- CNWS infections
Diagnostic investigations
1st investigations to order
- x-ray wrist
- thyroid function tests
- IGF1 and IGFBP3
- baseline pituitary function tests
- basic hematology 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
confirmed GH deficiency
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 is currently taking part in sponsored research (ongoing) for Pfizer Registry of Outcomes In GH Research (PROGRES). HWG has been previously invited to write a review article for The Lancet Diabetes & Endocrinology titled National UK guidelines for the management of paediatric craniopharyngioma for which he received financial compensation. HWG has been invited to give a lecture at the PE Connect Symposium, sponsored by an educational grant from Ipsen Ltd. He 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 program. 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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Hage C, Gan HW, Ibba A, et al. Advances in differential diagnosis and management of growth hormone deficiency in children. Nat Rev Endocrinol. 2021 Oct;17(10):608-24. Abstract
GH Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. J Clin Endocrinol Metab. 2000 Nov;85(11):3990-3.Full text Abstract
Grimberg A, DiVall SA, Polychronakos C, et al. 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. Horm Res Paediatr. 2016;86(6):361-97.Full text Abstract
Yuen KCJ, Biller BMK, Radovick S, et al. American Association of Clinical Endocrinologists and American College of Endocrinology guidelines for management of growth hormone deficiency in adults and patients transitioning from pediatric to adult care. Endocr Pract. 2019 Nov;25(11):1191-232.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Idiopathic short stature
- Constitutional delay in growth
- Familial short stature
More DifferentialsGuidelines
- 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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