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

Abstract

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 ​(Figs1,1, ​,22). Fig. 1 Photograph showing webbing of neck Fig. 2 Photograph showing the absence of left thumb and rudimentary right thumb Case Report An 18-year-old girl with primary amenorrhea attended the O.P.D. with normal I.Q. (1st year college student) and without such family history. On examination, her height is 154 cm, weight—42 kg, with webbing of neck, telecanthus; and her left thumb was absent and right thumb rudimentary. Systemic examination was normal. Breasts were well developed and axillary and pubic hairs were present. On perineal examination, there was a hymenal fringe and blind vagina. Uterus was absent on per rectal examination. Routine examination of blood, ECG, and chest X-ray reported normal. X-ray cervical spine showed fusion of the cervical vertebrae (Klippel Feil Syndrome). Serum FSH, LH, TSH, and testosterone were normal. USG [02/10/07] showed right-sided crossed fused ectopic kidney with normal corticomedullary differentiation, uterus absent, and normal gonads. Diagnostic laparoscopic [04/10/07] finding was asymmetric mullerian nodule [rt > lt] with rudimentary fallopian tubes, and both ovaries were normal with signs of ovulation. Karyotyping was Turner’s mosaics pattern (46XX/45XO). Diagnosis of MRKH type-B with gonadal dysgenesis was made. Vaginoplasty was done on 12/10/07 after proper counseling as parents wanted to arrange marriage. Post-operative period was uneventful.