A Review of Literature on Mrkh Syndrome

Abstract

Primary amenorrhea is described as the inability to reach menarche until the age of 14 in the lack of normal secondary sexual characteristics, or until the age of 16 in the absence of secondary sexual characteristics. Gonadal pathology is the most common cause of primary amenorrhea, followed by MRKH syndrome. MRKH syndrome is an uncommon congenital condition characterised by aplasia of the uterus and vaginal wall. It happens when the Müllerian duct fails to grow properly.It occurs once every 4500 female births. Primary amenorrhea affects mostly girls. It is defined by the presence of normal secondary sexual features, a normal 46 XX genotype, normal ovarian function in the majority of cases, and a missing or undeveloped uterus and upper part (2/3) of vagina. It is divided into two types: type A is an isolated condition, and type B is linked to various renal, skeletal, and cardiac anomalies. Psychological counselling and vaginoplasty are among the options for treatment. Vaginoplasty can be performed using a variety of non-surgical and surgical methods. The authors present a review of the literature on the embryology, etiopathogenesis, work-up, and therapy of MRKH syndrome.