Purpose or Case Report: 1.To review the embryology of female genital system.
2.To define Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and atypical MRKH, also called MURCS(Müllerian aplasia, unilateral renal agenesis and anomalies of the cervico-thoracic somites).
3.To discuss the imaging findings and clinical management of classic MRKH and contrast it to MURCS.
4.To discuss the rare association of MRKH and MURCS with gonadal dysgenesis/agenesis. US and MR were evaluated to determine efficacy of identifying adnexae.
Methods & Materials: A retrospective review (2000-2015) of diagnosed cases of MRKH/MURCS was performed using Montage search engine.The medical records of these patients were reviewed. Chromosomal abnormalities, physical examination findings and the identification of associated abnormalities including cardiac, renal, and skeletal anomalies were recorded. Sonographic and MR examinations were also reviewed. Images were evaluated for type of uterine anomaly as well as the presence or absence of ovarian, skeletal, cardiac or renal anomalies. In patients with abnormal ovaries, MR images were evaluated to determine the most reliable method to locate ovarian tissue.
Results: Eight patients were identified with MRKH or MURCS. Two had MRKH with normal ovaries, one had MRKH with complete gonadal agenesis, three had MURCS with normal ovaries, and two had MURCS, one with a streak gonad and the other with bilateral ovarian agenesis. Of the patients with MURCS, two had renal anomalies (solitary kidney and horseshoe pelvic kidney), and two had skeletal anomalies.
All patients were karyotypically female 46xx with two cases of 46xx with chromosomal deletion and one 46xx with chromosomal duplication.
In all patients, MRI was more accurate in delineating the extent of Müllerian dysgenesis and in confirming the presence or absence of normal gonadal tissue.
Conclusions: MRKH and MURCS, both related syndromes which occur secondary to a type 1 Müllerian agenesis/dysgenesis affecting the uterus and upper third of vagina in phenotypically and karyotypically females may present with normal, absent or dysplastic ovaries.
Identification of streak or ectopic gonads is essential in this patient population as early treatment with hormonal replacement therapy will allow these patients to develop secondary sexual characteristics.
MRI is superior to ultrasound in characterizing the degree of mullerian agenesis/dysgenesis as well as in identifying and locating gonadal tissue.