Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome - a review

Purpose: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital malformation characterized by an absence of the vagina associated with a variable abnormality of the uterus and the urinary tract butfunc-tional ovaries. We review the embryological, endocrino-logical, clinical, diagnostic, psychosocial and therapeutic features of this syndrome. Material and Methods: We performed a computer-ised Medline search and manual bibliographical review of more than 100 relevant articles on MRKHS published in the last 25 years. A thorough analysis of embryo-logical, endocrinological, clinical, psychosocial, diag-nostic and therapeutic features of this syndrome was performed and the important findings are summarised. Results: Embryologically, MRKHS appears to be the result of non fusion of the mesonephric duct (MD) with the Wolff an (WD). The various Mullerian defects found are agenesis of vagina or uterus, rudimentary vagina or uterus with normal ovarian function. Nearly 50% of these patients have renal anomalies like renal agenesis, ectopic kidney, fusion anomaly like horse-shoe kidney and vesicoureteric reflux. Skeletal abnormalities are found in 10% of these patients, 2/3 of whom have anoma-lies of the spine, ribs or limbs. Clinical observations also support the view that 2 or more syndromes lie behind the title of MRKH syndrome, namely an isolated form of con-genital agenesis of the vagina and uterus (typical/type A) and a more generalized condition, in which agenesis of the vagina and uterus is a major and perhaps even an obligatory characteristic (atypical/type B). Conclusion: Mayer-Rokitansky-Kuster-Hauser syn-drome (MRKHS) is a congenital malformation charac-terized by an absence of the vagina associated with a variable abnormality of the uterus and the urinary tract but functional ovaries. The various urinary tract anomalies described are renal agenesis, pelvic kidney, fusion anomaly like horse-shoe kidney and vesicoureteric reflux. It is not only worthwhile to be alert for these anomalies but also to study the skeletal and auditory systems in these pa-tients. The technology of in vitro fertilization enables a woman without a uterus to have her own genetic children