Genetic testing in pediatric endocrine pathology.

Medicine and Pharmacy Reports
Diana MicleaPaula Grigorescu-Sido


In genetic endocrine diseases, genetic testing is necessary for a precise diagnosis, which will provide a better knowledge of the evolution and prognosis and also indicate the adequate therapy, targeting the precise etiopathogenesis of the disease. Genetic testing in endocrinology is often based on classical cytogenetic techniques, molecular cytogenetic analysis or molecular biology techniques. Genetic testing in disorders of sex development includes the karyotype and SRY gene analysis and depending on the presence of associated clinical signs and on the observations at paraclinical examination, these tests will be followed by chromosomal array techniques and NGS sequencing. In short stature, the decision to perform a genetic test is taken depending on clinical, paraclinical and imaging signs. In case of a short stature associated with a low weight/length for gestational age, genetic testing is proposed to evaluate a Russell-Silver syndrome or if the short stature is associated with other clinical signs (e.g. intellectual disability), chromosomal analysis by microarray is proposed. If the short stature is disproportionate, it is indicated to perform a next generation sequencing (NGS) of a panel of genes involved in skeletal dys...Continue Reading

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