Endocrine Abstracts

Introduction: Thanks to advances in genetics, idiopatic short stature have, more frequently, a molecular diagnosis. Mutations in the ACAN gene are responsible for different forms of syndromic short stature but were also described in association with idiopathic short stature or with joint damage and advanced bone age. Transmission is autosomal dominant. Less than 25 mutations have been described since 2010 and are localized all along the protein. The ACAN gene...

Introduction: Short stature is a common cause of consultation in pediatric endocrinology. In 80% of cases, the etiology remains unknown1 and classified as « idiopathic short stature. We report the case of a child with a heterozygote complete deletion of the IGF1 gene.Case report: A 21 months old boy was referred in pediatric endocrinology because of his extreme short stature. The parents of Sicilian origin are not consanguineous. The fath...