Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.
Cicognani A., Pirazzoli P., Nicoletti A., Baronio F., Conti V., Bonetti S. (2010). The SHOX gene: a new indication for GH treatment. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 33(6), 15-18.
The SHOX gene: a new indication for GH treatment
Cicognani A.Primo
Conceptualization
;Pirazzoli P.Secondo
Validation
;Baronio F.
Writing – Review & Editing
;Conti V.Penultimo
Investigation
;Bonetti S.Ultimo
Validation
2010
Abstract
Short stature homeobox-containing (SHOX) gene mutations causing haploinsufficiency have been reported in idiopathic short stature, but the real prevalence of this defect in the population with growth failure is debated. Based on current data, the prevalence of SHOXdefect (SHOX-D) has been calculated to have occurred in at least 1 in 2,000 children. This occurrence rate is higher than that of classic GH deficiency or Turner syndrome. In all probability, the real prevalence of SHOX-D will increase in the future with the improvement of the genetic analysis with investigations for point mutations in the enhancer sequences or for deletions in other parts of this region. A selection criterion to individuate the most appropriate candidates eligible for the SHOX region analysis has been suggested based on the evaluation of a disproportional short stature. The efficacy of GH treatment in these patients has recently been demonstrated with results that are similar to those observed in Turner syndrome.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
