Mayer-Rokitansky-Küster-Hauser syndrome: a cause of primary amenorrhea: about a case

Abstract

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare cause of primary amenorrhea. It is defined as congenital aplasia of the uterus and of the upper two thirds of the vagina in women with normal development of secondary sexual characteristics. Diagnosis is essentially based on magnetic resonance imaging (MRI). We here report the case of a 17-year-old girl presenting with primary amenorrhea with well developed secondary sexual characteristics. Laboratory tests revealed normal ovarian function as well as gonadotropic axis. Pelvic ultrasonography and magnetic resonance imaging revealed complete uterine agenesis of the uterus, the upper two-thirds of the vagina and left kidney, allowing to confirm the diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome type II. This study highlights the importance of suspecting MRKH in young patients with well-developed sexual characteristics and any type of primary amenorrhea as well as of performing MRI in order to detect any specific sign of this disorder.