Skip to main content
ARS Home » Southeast Area » Stoneville, Mississippi » Warmwater Aquaculture Research Unit » Research » Publications at this Location » Publication #318296

Research Project: Biophotonics – Technology Development in Animal Research and Production Systems

Location: Warmwater Aquaculture Research Unit

Title: Mayer-rokitansky-kuster-hauser (MRKH) syndrome: a historical perspective

item Patnaik, Sourav - Mississippi State University
item Brazile, Bryn - Mississippi State University
item Dandolu, Vani - University Of Nevada
item Ryan, Peter - Mississippi State University
item Liao, Jun - Mississippi State University

Submitted to: Gene
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 9/21/2014
Publication Date: 9/26/2014
Citation: Patnaik, S.S., Brazile, B., Dandolu, V., Ryan, P., Liao, J. 2014. Mayer-rokitansky-kuster-hauser (MRKH) syndrome: a historical perspective. Gene. 555(1):33-40.

Interpretive Summary: Congenital absence of vagina and uterus or MRKH syndrome has been noted throughout history, but the etiology or pathophysiology of this condition is still not well understood. The presence of associated anomalies in MRKH patients makes the whole diagnosis and treatment process even more complicated. Moreover, the MRKH patients have shown to have a higher degree of variation in their genetic disposition. An improved, more anatomically focused, and clinically applicable classification system would ensure proper prognosis, improved treatment options, and better quality of life. This historical report on MRKH syndrome is a small step towards unraveling the mystery behind this rare genetic disorder.

Technical Abstract: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital defect of the Müllerian ducts characterized by uterovaginal agenesis and underdeveloped female genital organs. This paper is a tribute to the contributors of this condition - August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. In addition to their contributions, we have discussed findings and reports of similar defects from other important scientists (Hippocrates, Albucasis, etc.) dating as far back as 460B.C. We have also discussed the disease types and different classification systems including VCUAM and AFS/ASRM among others. Even with several surgical and non-surgical treatment options, there are still many questions that remain unanswered and very little is known about the etiology or genetic predisposition of this condition.