CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
artículos
Título:
The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation
Autor/es:
GRACIELA DEL REY
Revista:
Current Trends in Endocrinology
Editorial:
Trends in Endocrinology
Referencias:
Año: 2016 vol. 8 p. 65 - 68
ISSN:
0972-947X
Resumen:
SHOX deficiency is related to a diversity of clinical conditions, all characterized by growth failure observed in Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature. SHOX haploinsufficiency shows aspectrum of phenotypes whose clinical expression is variable becoming more pronounced with age and being more severe in females. Phenotypic heterogeneityis observed in patients with haploinsufficiency of SHOX where short stature isthe main clinical feature linked to the skeletal abnormalities.The SHOX gene is located in the telomeric PAR1region in the short arm of both X and Y chromosomes and escapes X inactivation,and as a consequence its mutations and microdeletions exert a dosage effect. SHOX is expressed at its highest levels in bonemorphogenic tissue, and encodes a homeodomain protein, a transcription factorknown to be involved in key regulatory and development processes.SHOX defects, mutations, duplications, and principally deletions involving SHOX exons and/or the cis-acting enhancers, have been detected in 50-90% of patients with Leri-Weill dyschondrosteosis, inalmost 100% of girls with Turner syndrome, and in 2-15% of individuals with idiopathicshort stature.The growth-promoting effect of GH therapy mayimprove final adult height, as its efficacy seems to be similar to thatobserved in Turner syndrome. However, the long-term effects of GH treatmentneed to be considered.