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Genetics of Growth Disorders-Which Patients Require Genetic Testing?

Argente, J; Tatton-Brown, K; Lehwalder, D; Pfäffle, R (2019) Genetics of Growth Disorders-Which Patients Require Genetic Testing? Front Endocrinol (Lausanne), 10. p. 602. ISSN 1664-2392 https://doi.org/10.3389/fendo.2019.00602
SGUL Authors: Tatton-Brown, Katrina Louise

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Abstract

The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in the clinical setting, in terms of both growth failure and overgrowth. For patients with short stature, multiple genes have been identified that result in GH deficiency, which may be isolated or associated with additional pituitary hormone deficiencies, or in growth hormone resistance, primary insulin-like growth factor (IGF) acid-labile subunit deficiency, IGF-I deficiency, IGF-II deficiency, IGF-I resistance, and primary PAPP-A2 deficiency. While genetic causes of short stature were previously thought to primarily be associated with the GH-IGF-I axis, it is now established that multiple genetic anomalies not associated with the GH-IGF-I axis can result in short stature. A number of genetic anomalies have also been shown to be associated with overgrowth, some of which involve the GH-IGF-I axis. In patients with overgrowth in combination with an intellectual disability, two predominant gene families, the epigenetic regulator genes, and PI3K/AKT pathway genes, have now been identified. Specific processes should be followed for decisions on which patients require genetic testing and which genes should be examined for anomalies. The decision to carry out genetic testing should be directed by the clinical process, not merely for research purposes. The intention of genetic testing should be to direct the clinical options for management of the growth disorder.

Item Type: Article
Additional Information: Copyright © 2019 Argente, Tatton-Brown, Lehwalder and Pfäffle. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Keywords: diagnosis, genetics, growth hormone, overgrowth, short stature, growth hormone, genetics, short stature, overgrowth, diagnosis
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Journal or Publication Title: Front Endocrinol (Lausanne)
ISSN: 1664-2392
Language: eng
Dates:
DateEvent
6 September 2019Published
19 August 2019Accepted
Publisher License: Creative Commons: Attribution 4.0
PubMed ID: 31555216
Web of Science ID: WOS:000484512000001
Go to PubMed abstract
URI: http://sgultest.da.ulcc.ac.uk/id/eprint/111268
Publisher's version: https://doi.org/10.3389/fendo.2019.00602

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