Reproductive and Psycho-sexual Aspects of Female Congenital Genital Defects and their Genetic Context.

Abstract

The aim of the dissertation was a retrospective-prospective analysis of the anatomical and functional effect of a neovagina creation using Vecchietti vaginoplasty, including the evaluation of quality of life, sexuality and interest in motherhood in women with Mayer- Rokitansky-Küster-Hauser syndrome (MRKHS). The study group included 70 women with MRKHS who underwent this surgery at the Department of Gynecology and Obstetrics, Second Medical Faculty, Charles University and University Hospital Motol in 2003-2022 and agreed with the participation in the study. The control group consisted of age-matched women without congenital anomalies of the genitals. The cause of MRKHS with agenesis of the uterus and the upper two-thirds of the vagina is the incorrect development of the paramesonephric (Müllerian) ducts. The ovaries are normal, oogenesis proceeds as usual and the production of female sex hormones is also normal. MRKHS is detected during adolescence due to primary amenorrhea at the age of 16 or impossibility of sexual intercourse. In the atypical form of MRKHS, simultaneous malformations of the kidneys, skeleton and cardiovascular organ system may occur. The dissertation is divided into theoretical and empirical parts. The theoretical part presents current knowledge about the history, etiology and..