Mayer-Rokitansky-Kuster-Hauser Type-B Anomaly with MURCS Association and Gonadal Dysgenesis.

The Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome affects 1 out of 4,500 women [1]. It is a malformation of the female genitals due to interrupted embryonic development of the mullerian (paramesonephric) ducts in otherwise chromosomally, phenotypically, and endocrinologically normal female. It is second to Turner’s syndrome as a cause of primary amenorrhea and was described by Mayer (1829), Rokitansky (1838), Kuster (1910), and Hauser and Schreiner (1961) in various literature studies, which was later designated as MRKH syndrome. MRKH syndrome is broadly subdivided into type A (typical) having symmetric uterine remnants and normal fallopian tubes and type B (atypical) with asymmetric uterine buds and abnormally developed fallopian tubes and other organ system anomalies. Gonadal agenesis or dysgenesis is a chromosomal aberration with a separate spectrum of anomalies having an overall incidence of about 1:2,500 live birth females, half of which have a mosaic pattern. These patients have multiple somatic abnormalities like short stature, broad chest, webbed neck, low hair line, sometimes low I.Q., cardiac abnormalities (1/3 cases), and renal abnormalities (35–70 %). They usually have pre-pubertal female genitalia, bilateral streak gonads, but usually normal uterus and vagina (Figs 1, 2).