Syndrom Mayer-Rokitansky-Küster-Hauser: Diagnostické a terapeutické možnosti – Chmel Roman (2021)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is one of the congenital developmental defects of the female reproductive organs, characterized primarily by the agenesis of the uterus and the upper two-thirds of the vagina in women with a normal female karyotype of 46,XX. However, the ovaries of these women are completely functional, and normal female secondary sexual characteristics (including thelarche and pubarche) develop during puberty. The frequency of this syndrome is approximately 1 in 4500–5000 female newborns. From today's perspective, it appears to be a multifactorial congenital developmental defect arising from a combination of genetic predisposition and environmental factors. Most cases occur sporadically, but there are also publications describing familial occurrences. The increasing availability of infertility treatment for women with absent or non-functional uteri through surrogate pregnancies or uterine transplantation combined with assisted reproductive methods may, in the future, allow biological and genetic motherhood for a greater number of women with uterine agenesis. As a result, a growing demand for prenatal diagnostics, including preimplantation genetic testing of embryos, is expected. The ambition of this monograph is to present to physicians from various specialties – gynecologists, obstetricians,…