Short stature due to SHOX gene deficiency: old and new insights

Key words: SHOX gene, Short stature, Léri-Weill dyschondrosteosis, Enhancer, Growth hormone

At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex chromosomes, are considered the most frequent genetic defects associated with short stature. Pathogenic mutations leading to SHOX deficiency involve not just exons, but also enhancer regions (affected in almost half of the cases) and follow an autosomal dominant inheritance pattern. Independently of the mutation, clinical severity varies between genders and ranges from idiopathic short stature to severe mesomelic skeletal dysplasia. Growth hormone is a valid treatment option to promote growth in this condition. In this article, current knowledge on manifestations, diagnosis and treatment of SHOX deficiency in children is summarised by a clinical case.