Abstract
Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is one of the congenital malformations of a woman's reproductive organs, the main feature of which is uterine agenesis and the upper two-thirds of the vagina in women with a normal female karyotype 46, XX. However, the ovaries of these women are fully functional, and normal female secondary sexual characteristics (including telarche and pubarche) develop during puberty.
The incidence of this syndrome is approximately 1: 4500-5000 female neonates. From today's point of view, it appears to be a multifactorial congenital malformation caused by a combination of genetic predisposition and environmental factors.
Most cases occur sporadically, but there are also publications describing familial occurrence. The increasing availability of infertility treatment for women with missing or dysfunctional uterine via surrogate pregnancy or uterine transplantation in combination with assisted reproduction methods may allow more women with uterine agenesis in the future for biological and genetic motherhood.
As a result, growing demand for prenatal diagnosis, including preimplantation embryo genetic testing, is expected. The ambition of this monograph is to present physicians with a number of specializations - gynecologists, obstetricians, assisted reproduction specialists, sexologists, psychologists, pediatricians, geneticists and endocrinologists - an up-to-date comprehensive overview of all issues related to this congenital anomaly.