Purpose of review
Mayer–Rokitansky–Küster–Hauser syndrome is undergoing new research outcomes involving genetics and management.
Recent literature supports a polygenic multifactorial genetic basis for the syndrome. Management is now predominantly by vaginal dilators and nonsurgical, but holistic. The future of uterine transplantation is discussed.
New developments open new possibilities for understanding the genetic basis of the disease, and research in this area will continue. Management in terms of fertility may have an added dimension if uterine transplantation and successful pregnancy outcome can be proven.