1. Abstract The onset of mestruation is a significant milestone of sexual maturation in a girl child. Although there are numerous causes of primary amenorrhoea, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia is one the extremely rare cause of primary amenorrhoea which is usually picked up by suitable imaging technique like Magnetic Resonance Imaging (MRI). MRKH is a rare congenital disorder that is characterised by aplasia of the uterus and upper part of the vagina with normal secondary sexual characters and a normal female karyotype (46, XX). The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 4500 live female births. MRKH syndrome is classified as type I (isolated utero-vaginal aplasia) or type II (associated with extra-genital manifestations also called Müllerian Renal Cervicohoracic Somite (MURCS) association). No specific treatment is known for this entity except for vaginoplasty for sexual gratification. A case of MRKH Syndrome is reported here where a 16 year old female child presented with primary amenorrhoea. The diagnosis was made initially on clinical suspicion by normal growth with normal secondary sexual characters with failure to achieve men struation at the age of 16 years, which was confirmed later by MRI Pelvis showing absence of uterus and normal ovaries and blind vaginal canal was visualised and no other renal or spinal anomalies noted. Karyotyping done revealed normal karyotype, 46 XX [1].
Keywords: Mayer- rokitansky- kUster- hauser syndrome (MRKH Syndrome); Uterine aplasia; Amenorrhoea, secondary sexual characters; Dyspareunia
2. Introduction Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also called Müllerian aplasia, is a rare congenital disorder resulting from failure of urogenital development with an estimated incidence of 1/4500 live female births. Embryologically, the uterus is formed by the Mullerian ducts that are paired tubes abutting the urogenitalridge giving rise to the upper portion of the female reproductive tract. Failure of proper development of the upper female urogenital tract results in a wide spectrum of anatomical abnormalities of thegenitourinary system. Mullerian agenesis, also known as Mayer- Rokitansky - Kuster - Hauser syndrome (MRKHS), is character- ised by absence or aplasia of the uterus, cervix, and/or upper va- gina without or with associated urological and other organ system involvement (MRKHS type I versus type II, respectively) [1]. Depending on the particular structures affected and the severity ofinvolvement, such abnormalities may be detected at birth or may go clinically unnoticed until there is absence of menarche or com-plaints of dyspareunia/sexual dysfunction with attempted sexual.
3. Case Report A 16-year-old female child belonging to Ghaziabad, Uttar Pradesh, presented with her mother with chief complaint of never having a menstrual period. There was no history of tubercular contact in the patient. Other family history was unremarkable. Female was not sexually active. There was no other relevant past history. There was no relevant drug history or history of any substance abuse. On examination her vital signs were within normal limits and her body mass index (BMI) was 25.51. Child had mild pallor with no icterus or lymphadenopathy, no signs of organomegaly or thyromegaly. Breasts were well- developed with no masses, tenderness, or discharge. Sexual Maturity Staging or Tanner Staging suggested Stage-5. Rest Systemic Examination was within normal limits. No cardiac abnormality was detected. No spinal anomaly detected. No evidence of webbed neck, broad chest, widely spaced nipples or cubitus valgus, nail dysplasia, low hairline, narrow or high arched palate or short fourth metacarpals or metatarsals. Child was evaluated for primary amenorrhoea based on the history. She had never been previously evaluated by a gynaecologist. Gynaecological examination showed no lesions and normal adult female pubic hair pattern, Tanner stage V. The cervix was not palpable or visualised. The uterus was not palpable and no adnexal masses were appreciated. Per vaginal examination revealed a blind vagina measuring 1.5 cm in diameter, no bleeding or discharge. The urethra was normal in appearance. Child had undergone biochemical evaluation previously at local clinics which revealed Hb- 12 gm%, Total Leucocyte Count- 8200, Differentials - Polymorphs- 58%, Lymphocytes- 34%, Eosinophils- 6%, Monocytes- 2% and ESR- 25 mm/hr, RBC- 4.53 million/cubic metre, Platelet count- 2.86 lac/ cumm, Blood sugar- 87.6 mg/dl, Mantoux test revealed a highly positive result with an induration of 35 x 40 mm after 48 hours with 5 TU, Chest Xray- suggestive of left lower zone heterogenous infiltrates, HIV serology- Negative and Hepatitis B and C markers were also negative. In light of the patient’s presentation, trans-abdominal ultrasound was performed, which revealed bilateral uteri non visualisation, only a streak of mass tissue measuring 39 mm x 9 mm seen, with no endometrium appreciated. The cervix was not imaged. Follicle-containing ovaries were imaged trans-abdominally and were normal in size and appearance bilaterally, definitively excluding the presence of testes and effectively ruling out congenital androgen insensitivity syndrome (CAIS). Right Ovary showing multiple follicles with the largest follicle measuring 15 x 5 mm and a simple cyst of size 35 x 30 mm. No fluid was appreciated in the Cul de sac. NCCT Abdomen revealed non visualisation of uterus, only streaky soft tissue in the region of uterus with ovaries normal in size with normal follicular appearance and mild mesenteric lymphadenopathy in ileo-caecal mesentery largest measuring 1.3 x 1.1 cm. MRI Pelvis revealed uterine aplasia with bilateral ovaries with normal morphology. The upper one-third of the vagina was absent, while the lower two-thirds were present. Rest study was normal. Together, the findings of primary amenorrhea, normal ovaries and female secondary sexual characteristics, and aplasia of the uterus with absence of the cervix and upper one-third of the vagina, were consistent with a diagnosis of MRKHS. A subsequent biochemical analysis was performed to further support the diagnosis of MRKHS. Levels of estriol, follicle-stimulating hormone (FSH), luteinising hormone (LH), total testosterone, were all within normal limits, again consistent with the diag-nosis of MRKHS (Table 1). Karyotyping was done and revealed normal karyotype (46 XX). Because of the well-known association between MRKHS and anatomical abnormali-ties of the urological system [2], a renal ultrasound was performed, which demon-strated normal bilateral kidneys, no evidence of hydronephrosis, and no evidence of contour deforming mass. Right kidney shows a calculus of size 4.1 mm seen in the upper pole.
4. Conclusion MRKHS represents a spectrum of urogenital anomalies arising from failure of the up-per female reproductive tract (Mullerian duct derivatives) to properly form during embryogenesis. In cases of MRKHS type I, patients exhibit varying degrees of con-genital aplasia of the uterus and upper vagina, without extra-gynaecological involve-ment and with normal secondary sexual characteristics [2] The typical presentation in this condition is primary amenorrhea. Some women may present with cyclical ab-dominal pain, and gynecological examination may reveal absent or rudimentary vagi-na[2]. MRKH syndrome is a form of Mullerian abnormality also known as Mullerian aplasia. It is caused by embryonic growth failure resulting in agenesis or underdevel-opment of the vagina or uterus or both [3]. 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 por-tion of the vagina are usually present because this portion is of a different embryonic origin. Cases of MRKHS type II involve renal, vertebral, auditory, and/or cardiac defects in addition to the aforementioned gynaecological anomalies. There are two subtypes of MRKH: the typical and the atypical forms [4]. The typical form is characterised by laparoscopic/laparotomy findings of Mullerian remnants and normal fallopian tubes. The atypical form shows asymmetric hypoplasia of one or two buds, possible dysplasia of the fallopian tubes with one or more of the anomalies, such as unilateral or bilateral renal agenesis, ectopic kidneys or horseshoe kidneys in 40–60% of cases. Other abnormalities include cervicothoracic (asymmetric, fused or wedged vertebrae, scoliosis and Klippel–Feil anomaly), 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 [4, 5]. The diagnosis is confirmed mainly with imaging modalities of ultrasonography and magnetic resonance imaging. These help to definitively characterise the anatomy. The preferred ultrasonography is the three-dimensional mode. Laparoscopy is considered when the earlier mentioned mo-dalities have not yielded adequate information or in the treatment of rudimentary uter-ine horns [6]. Karyotyping is also needed in establishing the diagnosis of MRKH syndrome as it helps in differentiating it from the other clinical conditions that appear similar in ap-pearances such as androgen insensitivity syndrome and 17α-hydroxylase syn-drome [7]. However, the absence of hypoplastic thumbs and a short neck strengthened the diagnosis of MRKH syndrome [4]. Here, we report a case of a woman with MRKHS with a blind lower vagina measur-ing 1.5 cm along with uterine aplasia on MRI pelvis and hormonal profile suggestive of a female phenotype whose only complaint was primary amenorrhea.
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K C Aggarwal. Mayer- Rokitansky- Kuster- Hauser Syndrome (MRKH SYNDROME)- An Unusual Case of Primary Amenorrhoea . Annals of Clinical and Medical Case Reports 2021