The Role of SHOX Gene in Short Stature of Turner Syndrome and Its Variant

Background:SHOXgeneislocatedontheedgeoTrorlrsllevl/parmsexchromosomecalledthepseudoautosomalregion-l (PARI) plays as afundamental role on controlling chondrocyte dffirentiation and apoptosis in the growth plate. Longitudinal growth is \ndetermined by environmental, hormonal and geneticfactors. Short stature is defined as a standing height below the third percentile according to Tanner et al. Short stature affects approximately 2% ofchildren. Turner syndrome is the most common genetic disorder infemale characterized by the absence of all or part of a nornal secondX chromosome, affecting 1:2500 liye-bornfemale babies. Short stature and ovarianfailure is the main clinicalfeature. The objective of this study is to elucidate the implication of SHOX gene \nin short stature ofTurner Syndrome and its yariant. \nMethod: Purposive sampling was performed to recruit female with short stature a/ier informed consent agreement. Female with growth treatment history and chronic diseases was excludedfrom this study. Cytogenetics testing was done for all samples by Gbanding method, in routine karyotyping. \nResuh: ll/e report 9 females with short stature which cytogenetically and clinically diagnosed as Turner Syndrome. Four cases is classic Turner syndrome with standing height is below third percentile, three cases are 45,X/46,X,i(Xq) withitanding height is below third percentile, one case is 46.XX/45,X (80%o) with standing height is below third percentile, and the rest is 46,XX/45,X (20%o) with \nstanding height is between 3'o-9/n percentile or normal. \nConclusion: SHOX gene haploinsfficiency is strongly indicated the cause of short stature in Turner Syndrome. \nKey words: SHOX gene, short stature, and Turner syndrome