Knee X-Ray in Short Stature: Helpful Indicator to Diagnose SHOX Deficiency

Abstract

A 15-year-old girl, born of a non-consanguineous union presented with primary amenorrhea and short stature. Axillary and pubic hairs were absent and she did not have breast budding. There were some stigmata of Turner's Syndrome (TS) like low set ears, low posterior hairline and cubitus valgus. There were no obvious knee deformities. Her karyotype was 45 XO. X-ray of her knees [Table/ Fig-1] revealed bilateral and symmetrical enlargement of medial condyles of tibia (thin and solid arrow) and the medial femoral condyle extended downward (thick and hollow arrow) more than the lateral one. Case 2A 14-year-old girl with menarche at the age of 12 year presented with severe short stature and bilateral cubitus valgus. Her breasts and pubic hairs were of Tanner stage 5 and she had cyclic predictable menses. Her karyotype was 46, XX and genetic study documented mutation in one of the Short Stature Homeobox (SHOX) gene confirming Léri