Growth hormone deficiency in children

Last reviewed: 3 Sep 2022

Last updated: 01 Feb 2022

Growth hormone deficiency (GHD) in children is a rare but treatable cause of growth failure in children. Growth hormone (GH) also has effects on bone mineral density, body composition, metabolic profile, and quality of life.

May be isolated (IGHD) or combined with other anterior and/or posterior pituitary hormone deficiencies (CPHD). The cause may be congenital or acquired.

Diagnosis is based on a combination of biochemistry, neuroradiology, and clinical phenotype.

Treatment in the form of recombinant human GH (rhGH) is safe and highly efficacious. Rapid diagnosis with early treatment results in attainment of a normal final height in most individuals.

Associated pituitary hormone deficiencies require treatment with hormone replacement and can evolve over time.

Endocrine reassessment should be undertaken after completion of growth and puberty, because some patients will require long-term GH therapy into adulthood because of its other beneficial effects.

Definition

Growth hormone deficiency (GHD), defined as suboptimal GH secretion, includes a group of different aetiological disorders. It may be isolated (IGHD) or combined with other anterior and/or posterior pituitary hormone deficiencies. Combined pituitary hormone deficiency (CPHD) is defined as a deficiency in two or more pituitary hormones. GHD may be congenital or acquired, sporadic or familial.

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

More key diagnostic factors

Other diagnostic factors

assisted birth
visual impairment
associated dysmorphic features
focal neurological deficits
hyperphagia/obesity
temperature dysregulation/sleep disorder
behavioural problems

Other diagnostic factors

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

More risk factors

Diagnostic investigations

1st investigations to order

x-ray wrist
thyroid function tests
IGF1 and IGFBP3
baseline pituitary function tests
basic haematology and biochemistry screen

More 1st investigations to order

Investigations to consider

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

More investigations to consider

Treatment algorithm

ACUTE

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

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

Disclosures

HK has had registration expenses paid for by Novo Nordisk for international meetings. 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

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

Disclosures

PS declares that he has no competing interests.

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Growth hormone deficiency in children

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Investigations to consider

Treatment algorithm

confirmed GH deficiency

Contributors

Authors

Hoong-Wei Gan, BMedSci (Hons), BMBS, MSc, PhD, MRCPCH

Disclosures

Harshini Katugampola, BSc, MBBS, MSc, PhD, MRCPCH

Disclosures

Acknowledgements

Disclosures

Peer reviewers

Martin Savage, MA, MD, FRCP, MRCPCH

Disclosures

Paul Saenger, MD, MACE

Disclosures

Differentials

Guidelines

Patient leaflets

Log in or subscribe to access all of BMJ Best Practice

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