Diagnosis of a variant of Mayer-Rokitansky-Kuster-Hauser syndrome: useful MRI findings.

ABSTRACT

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome consists of vaginal aplasia associated with other müllerian duct abnormalities. Its penetrance varies, as does the involvement of other organ systems. Type I MRKU syndrome is characterized by an isolated absence of the proximal two thirds of the vagina, whereas type II is marked by other malformations which include vertebral, cardiac, urologic (upper tract), and otologic anomalies. In both types, the extent of vaginal aplasia varies, ranging from virtually absent to a length much more inferior than the normal one (2-5 cm). MRKU syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. It is important to underline the fact that this syndrome is the second most common cause of primary amenorrhea. Although this condition has psychologically devastating consequences, its anatomical defects can be surgically treated. In fact, following diagnosis, surgery allows patients to have normal sexual function while reproduction may be possible if assisted techniques are performed.