A Case of Dysgenetic Male Pseudohermaphroditism Associated with Dicentric Y Isochromosome / 대한비뇨기과학회지

ABSTRACT

Dysgenetic male pseudohermaphroditism associated with a chromosomal abnormality is a disorder of sexual differentiation resulting from a defect in normal testicular differentiation during embryogenesis. Patients with this disorder present with bilateral dysgenetic testes, persistent internal Mullerian duct structures, cryptorchidism and ambiguous genitalia. Herein a case of male pseudohermaphroditism with bilateral dysgenetic testes and dicentric Y isochromosome (46, X, i (Yq) ) is presented with brief review of literatures.