The Challenge of Defining and Investigating the Causes of Idiopathic Short Stature and Finding an Effective Therapy
| Autor: | Stefano Cianfarani, Elena Inzaghi, Edward O. Reiter |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
Endocrinology Diabetes and Metabolism 030209 endocrinology & metabolism Genome-wide association study Gene mutation Bioinformatics Growth hormone Short stature 03 medical and health sciences 0302 clinical medicine Endocrinology medicine Genetic predisposition Humans Idiopathic short stature Insulin-like growth factor-1 Short normal children Insulin-Like Growth Factor I Child Growth Disorders Exome sequencing 030219 obstetrics & reproductive medicine Human Growth Hormone business.industry Genetic variants medicine.disease Settore MED/38 Child Preschool Mutation Pediatrics Perinatology and Child Health Female medicine.symptom business |
| Zdroj: | Hormone Research in Paediatrics. 92:71-83 |
| ISSN: | 1663-2826 1663-2818 |
| DOI: | 10.1159/000502901 |
| Popis: | Idiopathic short stature (ISS) comprises a wide range of conditions associated with short stature that elude the conventional diagnostic work-up and are often caused by still largely unknown genetic variants. In the last decade, the improvement of diagnostic techniques has led to the discovery of causal mutations in genes involved in the function of the growth hormone (GH)/insulin-like growth factor-I (IGF-I) axis as well as in growth plate physiology. However, many cases of ISS remain idiopathic. In the future, the more frequent identification of the underlying causes will allow a better stratification of subjects and offer a tailored management. GH therapy has been proposed and approved in some countries for the treatment of children with ISS. To improve the efficacy of GH therapy, trials with GH combined with GnRH agonists, aromatase inhibitors, and even IGF-I have been conducted. This review aims to revise the current definition of ISS and discuss the management of children with ISS on the basis of the most recent evidence. |
| Databáze: | OpenAIRE |
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