Genetic evaluation of short stature

Wit, J M; Kiess, W; Mullis, P (2011). Genetic evaluation of short stature. Best practice & research - clinical endocrinology & metabolism, 25(1), pp. 1-17. London: Baillière Tindall 10.1016/j.beem.2010.06.007

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After a proper medical history, growth analysis and physical examination of a short child, followed by radiological and laboratory screening, the clinician may decide to perform genetic testing. We propose several clinical algorithms that can be used to establish the diagnosis. GH1 and GHRHR should be tested in children with severe isolated growth hormone deficiency and a positive family history. A multiple pituitary dysfunction can be caused by defects in several genes, of which PROP1 and POU1F1 are most common. GH resistance can be caused by genetic defects in GHR, STAT5B, IGF1, IGFALS, which all have their specific clinical and biochemical characteristics. IGF-I resistance is seen in heterozygous defects of the IGF1R. If besides short stature additional abnormalities are present, these should be matched with known dysmorphic syndromes. If no obvious candidate gene can be determined, a whole genome approach can be taken to check for deletions, duplications and/or uniparental disomies.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Mullis, Primus-Eugen
ISSN:	1521-690X
Publisher:	Baillière Tindall
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:24
Last Modified:	05 Dec 2022 14:07
Publisher DOI:	10.1016/j.beem.2010.06.007
PubMed ID:	21396571
Web of Science ID:	000289320500002
URI:	https://boris.unibe.ch/id/eprint/8456 (FactScience: 214006)