AMBIGUOUS GENITALIA IN AN ELDERLY WOMAN WITH A MOSAIC 45,X 46,X,DIC(Y)(Q11.2) KARYOTYPE/

A 66-year-old woman presented with clitoromegaly since childhood, prim ary amenorrhea, no breast development, and a large right inguinal hern ia, A mosaic karyotype was identified containing a predominant 45,X ce ll line and a cell line with 46 chromosomes, one X chromosome, and a s mall dicentric Y chromosome with a breakpoint in band q11.2. The patie nt underwent hysterectomy, bilateral gonadectomy, inguinal hernia repa ir, clitoral recession, and formation of a neointroitus. A dysgerminom a was identified in the right dysgenetic gonad, This report demonstrat es the natural history of untreated mixed gonadal dysgenesis and the i mportance of early evaluation and treatment, as well as the molecular characterization of a dicentric Y chromosome.