17 January 2023 : Case report
Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathologyHari Soekersi1ACDEF, Riza Putri Aulia Hernowo1ACDEF
Am J Case Rep In Press; DOI: 10.12659/AJCR.939011
Available online: 2023-01-17, In Press, Corrected Proof
Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a complex disorder of the female reproductive system that results in an absent uterus and vagina. MRKH syndrome can be an isolated anomaly (typical) or accompanied by other organ anomalies (atypical). Due to the similarity of symptoms with other congenital gynecological diseases, imaging modalities remain the most important tools in establishing the diagnosis by visualizing internal genital and detecting possible organ malformations.
We present a very rare case of a female with primary amenorrhea. Pelvic magnetic resonance imaging (MRI) showed the absence of a uterus and vagina with possible Mullerian remnants, as well as an incidental finding of a right ectopic kidney. Abdominal ultrasonography and chest X-ray showed that the patient also had situs inversus totalis.
MRKH syndrome may be associated with situs inversus totalis due to possible early embryologic malformations causing both conditions; however, the exact mechanism is still unknown. This report should serve as a more recent attempt to question whether situs inversus totalis is related to MRKH and to emphasize the importance of imaging modalities, especially MRI, in establishing the diagnosis of MRKH syndrome and the associated malformations.
Keywords: Magnetic Resonance Imaging; Situs Inversus; Mullerian Aplasia
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