hrp0095p2-159 | Growth and Syndromes | ESPE2022
Kedar Tal
, Marek-Yagel Dina
, Gruber Noah
, Mazor-Aronovitch Kineret
, Pinhas-Hamiel Orit
, Yeshayahu Yonatan
Shox gene deficiency which causes short stature is a known indication for treatment with growth hormone. The prevalence of shox deficiency among children with idiopathic short stature has a high variability in different studies and ranges between 1.5-17%. We aimed to determine the incidence of SHOX haploinsufficiency in our region and to assess the genotype-phenotype relation which may help with setting criteria in the decision to which patients should we offer this genetic te...