The Mayer-Rokitansky syndrome: pathogenesis, classification and management

Agenesis of the vagina in karyotypic female subjects may be accompanied by other defects of the urogenital system. We describe 8 cases that exemplify nearly all variants in the group of müllerian and renal anomalies that we identify as the Mayer-Rokitansky syndrome. We trace the association of system defects to errors of formation of the wolffian body. This structure is the progenitor of the gonad and wolffian duct, which although temporary in the female subject, gives rise to the ureter and is the path finder of the müllerian system. Errors of formation or premature atrophy of the wolffian duct, or intrinsic müllerian organizers lead to the array of anomalies in this syndrome. Vaginal agenesis was found to be associated with müllerian, renal or ovarian defects in numerous embryological combinations. We propose a müllerian classification, and describe the current diagnostic modalities and techniques of surgery.