title: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a historical perspective.
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.
authors.affiliation: Department of Agricultural and Biological Engineering, Mississippi State University, MS, USA. Electronic address: sp435@msstate.edu.
authors.forename: Sourav S
authors.initials: SS
authors.lastname: Patnaik
authors.affiliation: Department of Agricultural and Biological Engineering, Mississippi State University, MS, USA.
authors.forename: Bryn
authors.initials: B
authors.lastname: Brazile
authors.affiliation: Department of Obstetrics and Gynecology, University of Nevada Medical School, Reno, NV, USA.
authors.forename: Vani
authors.initials: V
authors.lastname: Dandolu
authors.affiliation: Department of Animal and Dairy Sciences, Mississippi State University, MS, USA; Department of Pathobiology and Population Medicine, Mississippi State University, MS, USA.
authors.forename: Peter L
authors.initials: PL
authors.lastname: Ryan
authors.affiliation: Department of Agricultural and Biological Engineering, Mississippi State University, MS, USA.
authors.forename: Jun
authors.initials: J
authors.lastname: Liao
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000266:history*; D000818:Animals; D002971:Cleft Lip / Q000235:genetics / Q000266:history; D002972:Cleft Palate / Q000235:genetics / Q000266:history; D000013:Congenital Abnormalities / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000266:history*; D049670:History, 17th Century; D049671:History, 18th Century; D049690:History, Ancient; D049691:History, Medieval; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000266:history; D008046:Lip / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities*; D035583:Rare Diseases / Q000175:diagnosis / Q000235:genetics / Q000266:history
keywords: August Franz Joseph Karl Mayer; Congenital defect; Developmental genes; Georges André Hauser; Hermann Küster; Karl Freiherr von Rokitansky; MRKH syndrome; Müllerian agenesis; Vaginal agenesis; Vaginoplasty