Mayer-Rokintansky-Kuster-Hauser syndrome of Mullerian agenesis

Abstract

Mullerian agenesis, a congenital malformation of the genital tract is the second most common cause of primary amenorrhoea. Its etiology is poorly understood. It may be associated with renal, skeletal or other abnormalities. The diagnosis is often made radiologically or laparoscopically. Three-dimensional ultrasound is a useful diagnostic tool. The hormonal profile and karyotype in these patients are normal. The management varies, but the treatment of choice is non surgical aimed at creating a neovagina. These patients require psychological support due to the implications for reproduction. Here, we present the case of a 24-year-old married woman with primary amenorrhoea with this malformation.