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
- CNS (suprasellar) symptoms
- characteristic facial appearance
Other diagnostic factors
- assisted birth
- neonatal complications
- undescended testes/small penis
- visual impairment
- associated dysmorphic features
- focal neurological deficits
- hyperphagia/obesity
- temperature dysregulation/sleep disorder
- behavioural problems
Risk factors
- FHx of GHD
- other pituitary hormone deficiency
- CNS tumours/cysts
- radiotherapy
- midline abnormalities
- CNS infiltrative disorders
- perinatal complications
- CNS trauma
- pre-existing iron overload disorder
- child abuse
- CNS infections
Diagnostic investigations
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
Paediatric Endocrinologist
London
UK
Disclosures
AM is an author of several references cited in this topic.
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 has received lecture fees from Novo Nordisk, Pfizer, and Ipsen; consultancy fees from Novo Nordisk, Pfizer, Ipsen, and Sandoz; and is 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 declares that none of these activities are related to this topic. MTD is an author of a number of references cited in this topic.
Dr Ameeta Mehta and Dr Mehul T. Dattani would like to gratefully acknowledge Dr Kyriaki S. Alatzoglou, a previous contributor to this topic. KSA is an author of a number of references cited in this monograph.
Peer reviewers
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.
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