The Mayer-Rokitansky-Küstner-Hauser syndrome.

OBJECTIVES

To describe the case of a woman affected by a rare syndrome, known as Mayer-Rokintansky-Küstner-Hauser syndrome (MRKH), characterized by congenital absence of uterus and upper vagina, often found associated with renal agenesia or other renal malformations, which in this case, presented as the prime feature of the disease, with left pelvic pain due to a hydronephrosis of the right cross ectopic kidney.

MATERIAL AND

METHODS

A kidneys ultrasound and an abdominal computerized tomography were executed to find the cause of the left pelvic pain referred by the woman and associated too, with a primary amenorrhea, with a normal 46, XX karyotypes and normal external genitalia.

RESULTS

Examination and diagnostic images revealed an absence of the upper vagina, uterine agenesia, asymmetric hypoplasia of the buds associated with left kidney agenesia and cross-ectopia of the right kidney which was visualized in the left iliac fossa.

CONCLUSIONS

Treatment is usually delayed until the patient is ready to start sexual activity. It is based on the surgical creation of a neovagina. In addition it is important to manage the psychological symptoms indeed in a young woman, the discovery of a malformation involving reproductive organs could be cause of anxiety about her femininity and her physical image. Everyday improvement in medical technology offers to such a woman, the possibility to satisfy her necessity to be mother through the use of the modern procreating assisted technology, bypassing the absence of the inner genital tract. In those cases it is also important to investigate the contemporary association not only of renal defects but also of cervico-thoracic and hearing, digital anomalies. When all those malformations are presented, the term MURCS (Müllerian Renal Cervical Somite) is used to define the most severe form of the disorder