Physiologist Mayer (1829), Rokitansky (1938), Küster (1910), and gynecologist Hauser (1961) described in 1829 [1]. Most common cause of primary amenorrhea in females is gonadal dysgenesis, and the second most common cause is Mayer–Rokitansky–Küster–Hauser syndrome. This syndrome has incidence of 1 per 4000–10,000 females. This syndrome occurs due to interruption of developing Mullerian ducts during fourth to twelfth week of gestation. During normal development of bilateral Mullerian ducts, these ducts fuse distally and form lower two-thirds of the vagina and uterus and the proximal portion of the Mullerian ducts remains free and forms the bilateral fallopian tubes. Generally, ovarian development is seen in this syndrome as ovaries do not develop from Mullerian ducts. Active endometrial tissue is seen in only 2% to 7% of patients with Mayer–Rokitansky–Küster–Hauser syndrome. Multiple genes are involved leading to this rare syndrome [4].
Typical presentation of Mayer–Rokitansky–Küster–Hauser syndrome is primary amenorrhea. Some may present with cyclical abdominal pain, and gynecological examination may reveal absent or rudimentary vagina [5]. This syndrome occurs due to growth failure during embryogenesis resulting in agenesis or partial development of vagina or uterus or both [6]. The ovaries are of a different embryologic origin, and they are normal in structure and function; thus, patients with this syndrome usually appear normal on physical examination with normal height and secondary sexual characteristics. The labia majora, labia minora, clitoris, hymen and distal portion of the vagina are usually present because this portion is of a different embryonic origin. The karyotype and hormone profile are also normal as seen in this case [7]. There are two subtypes of Mayer–Rokitansky–Küster–Hauser syndrome: the typical and the atypical forms. Remnants of Mullerian ducts and bilateral normal fallopian tubes are seen on laparoscopy in typical form and atypical form shows dysplasia of fallopian tubes with hypoplasia of one or both buds with other associated anomalies like unilateral or bilateral renal agenesis, ectopic kidneys or horseshoe kidneys in 40–60% of cases. Other abnormalities include cervicothoracic, hearing defects and varying degrees of digital anomalies. The most severe form of the atypical form is referred to as Mullerian renal cervical somite association [8,9,10,11].
One should undergo clinical examination and imaging when there is no pubertal development by the age of 13 years or if menarche has not been achieved by the age of 15 years. When the patient does not achieved menarche within five years of thelarche, one should undergo imaging modalities for knowing the causes of primary amenorrhea. There are various reasons for primary amenorrhea that includes all the causes leading to secondary amenorrhea which includes normal pregnancy, increased prolactin levels in blood, pituitary and hypothalamus abnormalities leading to hormonal imbalance and polycystic ovarian syndrome. All the conditions leading to blind ending vaginal pouch like case of imperforate hymen, low transverse vaginal septum, factors leading to congenital absence of the vagina and enzyme deficiency like androgen insensitivity and 17α-hydroxylase deficiency can be included in the differential diagnosis. The initial step taken for investigating the cause of primary amenorrhea a proper physical examination and thorough history should be taken [12]. One should look for vagina and uterus including hormonal assessment. In order to differentiate the Turner syndrome (45, XO) from Mayer–Rokitansky–Küster–Hauser syndrome and also testicular feminization karyotype analysis should be done. If we are suspecting virilization or hirsutism, then levels of total and free testosterone, DHEA sulfate should be checked. Progesterone challenge test should be done to check the function of uterus if present and levels of estradiol should be checked if there are no signs of thelarche. First imaging modality for assessing the abnormalities related to Mullerian ducts is transvaginal ultrasound. If any abnormality is seen on ultrasound, magnetic resonance imaging of pelvis including abdomen should be advised. If proper diagnosis could not be made with imaging, last resort is direct visualization of structures on laparoscopy where one can assess the severity of Mayer–Rokitansky–Küster–Hauser syndrome anomalies [4].
Young females with this rare syndrome have normal body hair distribution, height and secondary sexual character. These patients have normal external genitalia but usually do not have normal full-length vagina; cervix may or may not be present. Females with this syndrome have high incidence of congenital malformations, and so a careful examination of urinary tract and skeletal is done.