Publication at Faculty of Medicine in Pilsen |
2018
Abstract
Summary: Molecular-genetic testing of the SHOX gene is routinely available in the Czech Republic and it should be indicated by pediatricians in advance before the end of growth, when growth hormone treatment is still possible in patients. Deletion/duplication was demonstrated by the MLPA method as the cause of Léri-Weill's syndrome/idiopathic small stature in approximately 5% of patients (n=103) undergoing molecular-genetic testing.
If hormone disorders and chronic diseases are excluded in children with growth retardation, molecular-genetic examination of the SHOX gene should be performed.