The role of the SHOX gene in the pathophysiology of Turner syndrome.

Turner syndrome (TS) affects 1:2500 live females. It is caused by partial or complete absence of a sex chromosome. Patients with deletions of the distal segment of the short arm of X chromosome (Xp-) including haploinsufficiency of the SHOX (short stature homeobox) have, more often, short stature, skeletal abnormalities and hearing impairments. This article evaluates the current knowledge of the SHOX gene role in TS pathophysiology. Articles were searched from MEDLINE and LILACS databases, in the past 10 years, using the following keywords: Turner syndrome, SHOX gene, haploinsufficiency, short stature and hearing loss. As the inheritance of only one copy of the SHOX gene does not explain most of TS anomalies, more studies are needed to explain them. These studies will also improve understanding how SHOX participates in cartilage and bone growth and will help develop novel therapeutic strategies focused on SHOX-related disorders.