Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder that occurs during foetal development. MRKH is characterised by agenesis of the uterus and part of the vagina. Its exact aetiology is s...Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder that occurs during foetal development. MRKH is characterised by agenesis of the uterus and part of the vagina. Its exact aetiology is still unknown due to the complexity of the genetic pathways involved in the embryogenetic development of the Müllerian ducts. Although these women have a female phenotype and functional ovaries, they do not have menstrual cycles. We report the rare case of a 23-year-old married woman who consulted us for primary amenorrhoea and desire for pregnancy. On assessment and investigation, it was confirmed that the patient had no uterus and a poorly developed vagina. However, she had normal functioning ovaries, and no abnormalities in other organs were detected. A multidisciplinary team provided advice on the nature of the anomaly, its implications for sex life, infertility and possible child adoption alternatives.展开更多
文摘Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder that occurs during foetal development. MRKH is characterised by agenesis of the uterus and part of the vagina. Its exact aetiology is still unknown due to the complexity of the genetic pathways involved in the embryogenetic development of the Müllerian ducts. Although these women have a female phenotype and functional ovaries, they do not have menstrual cycles. We report the rare case of a 23-year-old married woman who consulted us for primary amenorrhoea and desire for pregnancy. On assessment and investigation, it was confirmed that the patient had no uterus and a poorly developed vagina. However, she had normal functioning ovaries, and no abnormalities in other organs were detected. A multidisciplinary team provided advice on the nature of the anomaly, its implications for sex life, infertility and possible child adoption alternatives.
