Mayer-Rokitansky-Kuster-Hauser Syndrome - A Detailed Study of Nine Cases

Author(s): Amulya Reddy Bellal1 , Puneet Shirbur2 , Geetha R.G. 3

BACKGROUND Mayer-Rokitansky-Küster-Hauser Syndrome or MRKH Syndrome is a rare condition and is the second most common cause of primary amenorrhea, comprising of vaginal atresia (upper two thirds), rudimentary uterus, normal fallopian tubes, ovaries, broad and round ligaments. The spectrum of uterine anomalies (hypoplasia or duplication) include a partial lumen to a bicornuate or septate uterus with obstruction (unilateral or bilateral). The incidence is 1 in 4500 - 5000 female live births, presenting with primary amenorrhoea. The secondary sexual characteristics, external genitalia, ovaries and karyotype are normal. There are two types - the first type is the isolated form and the second type also termed as MURCS association [Müllerian duct aplasia, renal dysplasia-agenesis, hydronephrosis, horseshoe kidney and cervicothoracic anomalies such as fused vertebrae, scoliosis etc.]. Initial assessment with ultrasound scan of abdomen and pelvis followed by MRI study of the abdomen and pelvis are the imaging modalities of choice. METHODS This is a case series of 9 female patients who had presented to the Department of Obstetrics & Gynaecology and the Department of Radiodiagnosis from July 2019 to June 2020, aged between 15 and 20 years with a chief complaint of anxiety due to primary amenorrhoea. Following a thorough clinical, gynaecological and biochemical evaluation (levels of FSH, LH and 17 beta oestradiol), radiological examination (ultrasound and MRI - abdomen and pelvis) was conducted. RESULTS In our study, out of a total of nine cases, six cases were MRKH Type I and three were MRKH Type 2. All the nine cases presented with primary amenorrhoea, normal secondary sexual characteristics (except one case with ectopic atrophic ovaries) and normal external genitalia. Available hormonal profile was unremarkable. Uterus was not palpable on PV and per speculum examination. Along with the above features, when features of only hypoplastic / infantile / rudimentary / absent uterus with hypoplastic / absent upper two thirds of vagina, normal pelvic ovaries or ectopic inguinal ovaries was present, a diagnosis of MRKH Type–I was given. With additional features of renal abnormalities or skeletal system abnormalities, a diagnosis of MRKH Type–II was given. CONCLUSIONS MRKH syndrome is a condition caused due to the failure of fusion of Müllerian duct derivatives. It affects 1 in 4500 - 5000 female live births. It is a class I Mullerian duct anomaly including vaginal atresia, uterine anomalies & malformations of the upper urinary tract. There are two types in this. USG and MRI of the abdomen and pelvis are helpful in imaging this condition.