Dicentric Y Chromosome and Mixed Dysgenesis

Abstract

We report 4 cases of mixed gonadal dysgenesis with a karyotype containing a dicentric Y chromosome. All cases were mosaic with 45X and 46X, dic(Y) cell lines. Of the patients 1 had ambiguous genitalia and some features of Turner’s syndrome, 2 had classical features of Turner’s syndrome with normal female external genitalia and 1 had no features of Turner’s syndrome but he presented with penoscrotal hypospadias, inguinal hernia and cryptorchidism. Female gender assignment and early total gonadectomy should be considered when a dicentric Y chromosome is present in cases of mixed gonadal dysgenesis.