ESPE Abstracts

Introduction: DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) plays an important role in developing the adrenal gland and testis during embryonic stage. On the other hand, overexpressed DAX1 causes 46,XY disorders of sex development (DSD), in which patients often have short stature, mental retardation, and telecanthus. Here we report a case of 46,Y,dup(X)(p21.2p22.2) DSD caused by overexpressed DAX1.Case ...