|Year : 2015 | Volume
| Issue : 2 | Page : 206-209
Role of imaging in Mayer-Rokitansky-Kuster-Hauser syndrome
Sanjay M Khaladkar, Rajesh Kuber, Dhaval K Thakkar, Anubhav Kamal, VM Kulkarni
Department of Radio-diagnosis, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India
|Date of Web Publication||13-Mar-2015|
Sanjay M Khaladkar
Flat No. 5, Plot No. 8, S. No. - 26/A, Tejas Bldg., Sahawas Society, Karve Nagar, Pune - 411 052, Maharashtra
Source of Support: None, Conflict of Interest: None
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital absence of the uterus and upper 2/3 rd of vagina with a normal 46, XX karyotype and normally developed secondary sexual characteristics. It affects 1:4000 women. It may be isolated (Type I) or frequently associated with renal, vertebral anomalies and less frequently associated with auditory, cardiac defects (Type II). It presents with primary amenorrhea in young women with normal external genitalia and normal development of secondary sexual characteristics with normal functioning ovaries and karyotype 46, XX without visible chromosomal anomaly. It was considered as sporadic anomaly but an increasing number of familial cases is suggestive of genetic cause in whom it is transmitted as autosomal dominant trait with incomplete penetrance and variable expressibility. This is suggestive of involvement of mutation in a major development gene or a limited chromosomal imbalance. Etiology of MRKH syndrome is still unclear. In order to allow sexual intercourse, treatment is aimed at creation of neovagina. Patients and their families must attend counseling before and throughout treatment as psychological distress is very important in young women with MRKH. We hereby report a rare case of MRKH syndrome in a 19-year-old married female patient presenting with primary amenorrhea, coital difficulty and no other clinical disorder.
Keywords: Gonadal dysgenesis, magnetic resonance imaging, Mayer-Rokitansky-Kuster-Hauser syndrome, Müllerian agenesis
|How to cite this article:|
Khaladkar SM, Kuber R, Thakkar DK, Kamal A, Kulkarni V M. Role of imaging in Mayer-Rokitansky-Kuster-Hauser syndrome. Med J DY Patil Univ 2015;8:206-9
|How to cite this URL:|
Khaladkar SM, Kuber R, Thakkar DK, Kamal A, Kulkarni V M. Role of imaging in Mayer-Rokitansky-Kuster-Hauser syndrome. Med J DY Patil Univ [serial online] 2015 [cited 2020 Oct 24];8:206-9. Available from: https://www.mjdrdypu.org/text.asp?2015/8/2/206/153164
| Introduction|| |
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome consists of vaginal aplasia with other müllerian (i.e., paramesonephric) duct abnormalities. This was proposed by Karl Mayer, Von Rokitansky, Hermann Kuster, and G. A. Hauser.  Incidence of MRKH is 1:4000.  Majority of the cases are sporadic, familial cases are described in whom mode of inheritance is Autosomal dominant with incomplete degree of penetrance and variable expressibilty. MRKH syndrome is also referred as congenital absence of the uterus and vagina, mullerian aplasia or genital renal ear syndrome (GRES). This syndrome is subdivided into two types Type I (isolated) or Rokitansky sequence (OMIM 277000), and Type II or Müllerian duct aplasia, Renal dysplasia and Cervical Somite anomalies (MURCS) association (OMIM 601076). It is preferable that all entities of MRKH Type I and Type II be referred to the unique OMIM number 601076. Type I MRKH is less than Type II MRKH. 
Type I MRKH syndrome is characterized by isolated congenital aplasia of the uterus and upper 1/3 rd of the vagina with normal secondary sexual characteristics and normal 46XX karyotype. Type II MRKH syndrome or MURCS association shows associated malformation like renal (unilateral agenesis, ectopia of kidneys, horshoe kidneys), skeletal (Klippel anomaly, fused vertebra, mainly cervical, scoliosis, hearing defects, cardiac and digital anomalies (rare) - syndactaly and polydactaly. Incomplete aplasia and/or associated with other malformation is Type II MRKH syndrome or MURCS association, also called as GRES syndrome. 
Principle features are primary amenorrhea with normal female phenotype, normal 46, XX karyotype and functioning ovaries with no sign of androgen excess. External examination shows normal external genitalia and normal secondary female sexual characteristics (pubic hair and breast development).  Vagina is reduced to none or less deep (2-7 cm) vagina/dimple. Anatomic examination is essential to differentiate Type I from Type II. In Type I MRKH there is complete uterus aplasia in the presence of two rudimentary horn linked by peritoneal fold and normal Fallopian tube More Details. In Type II MRKH, there is symmetric or asymmetric uterine hypoplasia accompanied by aplasia of one of the two horns or by a size difference between the two horn rudiments, coupled with tubal malformations such as hypoplasia or aplasia of one or the two tubes. 
| Case Report|| |
A 19-year-old married female patient presented with primary amenorrhea, coital difficulties in the form of dyspareunia and no other clinical disorder. At clinical examination, the patient demonstrated a development of secondary sexual characteristics when compared with her chronological age and normal external genitalia. On gynecological examination, vagina measured approximately 2-3 cm in length with a blind end.
Transabdominal US did not demonstrate the presence of uterus [Figure 1] and ovaries in their habitual site, but the study was inconclusive because of technical difficulties. Left renal fossa was empty [Figure 2]a and could not be found in pelvis or other ectopic sites. However, right kidney was normal in size shape and location [Figure 2]b. On magnetic resonance imaging (MRI) confirmed normal location of the right kidney and absence of the left kidney in left renal fossa [Figure 3]a and b. Sagittal short TI inversion recovery MRI revealed that uterus and upper 2/3 rd of vagina were not visualized. However lower 1/3 rd of vagina was well appreciated [Figure 4]. Right ovary measured 2.9 cm × 2.2 cm with multiple follicles was seen within it, largest measuring 1.6 cm × 1 cm. It was normal in size, shape and position [Figure 5]a. Left ovary measured 2.9 cm × 1.7 cm with multiple follicles within it, largest measuring 1 cm × 1 cm. It was normal in size and shape. It was located intra-peritoneally at the level of left iliac crest anterior to left iliacus, lateral to left psoas and posterior to rectus abdominis muscle [Figure 5]b.
|Figure 1: Transverse section through the bladder using 1-4 MHz probe showing absence of uterus|
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|Figure 2: (a) Longitudinal section through spleen using 1-4 MHz probe showing empty left renal fossa. (b) Longitudinal section through right kidney using 1-4 MHz probe showing normal appearance and location of right kidney in right renal fossa|
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|Figure 3: (a and b) Are T2-weighted image coronal magnetic resonance imaging obtained by Siemens Avanto 1.5 (Siemens MAGNETOM Avanto 1.5 Tesla MRI Machine) Tesla confi rming normal location of right kidney and absence of left kidney in left renal fossa|
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|Figure 4: Sagittal short TI inversion recovery image obtained by Siemens Avanto 1.5 Tesla at the level of pubic symphysis showing absence of uterus, cervix and upper 2/3rd of vagina. However lower 1/3rd of vagina is appreciated seen as linear hyperintensity shown by arrow|
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|Figure 5: (a and b) Are short TI inversion recovery coronal magnetic resonance imaging obtained by Siemens Avanto 1.5 Tesla confirming normal location of right ovary and left ovary is located intra-peritoneally at the level of left iliac crest with multiple follicles suggesting normal functioning|
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| Discussion|| |
Uterus, cervix, upper 3/4 th of the vagina and fallopian tube develop from mullerian ducts between 8 and 12 gestational week. Developmental defects occurring at this stage leads to agenesis of mullerian structures. Development of kidneys, ureter, and bladder occur concomitantly at 6-12 weeks. Hence, associated renal anomalies are seen.
On an average, 30-40% of MRKH may present with an inability to have intercourse. The degree of vaginal aplasia varies from complete absence to a blind pouch. , More shallow the canal, more likelihood of dyspareunia. Chromosomal anomalies are essential to rule out Turner's syndrome (absence of X chromosome), androgen insensitivity syndrome, 46 XY karyotype. Human chorionic gonadotropin, luteinizing hormone and follicle-stimulating hormone levels are normal suggestive of appropriate ovarian function. Typical and atypical MRKH syndrome are designated as Type A and B, respectively.
Diagnostic imaging aims at depicting upper level of the vagina and length of obstruction. Transabdominal ultrasonography is simple, noninvasive, first line of investigation. It reveals the absence of uterine structure between the urinary bladder and rectum. A quadrangular retro-vesical structure may be wrongly identified as a hypoplasic or juvenile uterus, which corresponds to the vestigial lamina located underneath the peritoneal fold, situated transversally to the posterior side of the bladder, where uterosacral ligaments attach. As vestigial lamina shows no cavity, there is no evidence of a hyperechogenic line, which normally corresponds to endometrium. Associated renal anomalies are looked for.
Magnetic resonance imaging is a noninvasive technique, which is more sensitive and more specific means of diagnosis than ultrasonography. It is performed when ultrasonographic findings are inconclusive or incomplete, as failure to clearly identify the uterus or Müllerian rudiments or ovaries does not necessarily imply their absence. MRI accurately evaluated uterine aplasia with clear visualization of the rudimentary horns and ovaries. The uterine aplasia are best detected on sagittal images, while vaginal aplasia on transverse images. It also helps in detecting associated renal and skeletal malformations.
Celioscopy is an invasive technique requiring hospitalization and anesthesia and is reserved for women in whom interventional therapy (construction of a neovagina) is likely to be undertaken. It is performed in cases of doubtful diagnosis after ultrasonography and/or MRI. It gives precise anatomical location and abnormalities of the uterus, the possible tubal remnants, the vestigial lamina and ovaries. 
Differential diagnosis of MRKH includes patients presenting with primary amenorrhea and with normal secondary sexual characteristics [Table 1]. 
|Table 1: Summary of differential diagnosis between MRKH syndrome and isolated vaginal atresia, WNT4 syndrome, and AIS|
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Treatment of uterovaginal aplasia consists of creating a neovagina in patients only who want to start sexual activity when they are emotionally mature.  There need to anatomically manage the anomaly so that young women may have the option to engage more easily in penile-vaginal intercourse.  There are two main types of procedure. The first one consists of the creation of a new cavity, which can be nonsurgical or surgical. The second is vaginal replacement with a preexisting canal lined with a mucous membrane (a segment of bowel).
In nonsurgical creation of a neovagina most commonly used method is Franck's dilator method. It involves application initially by the clinician and then by the patient herself, of vaginal dilators (Hegar candles), progressively increasing in length and diameter. Dilators are placed on the perineal dimple for at least 20 min a day. However, it can be applied only when the vaginal dimple is deep enough (2-4 cm).
In surgical creation of a neovagina, the following methods are currently in use:
- Abbe-McIndoe operation involves dissection of space between the rectum and the bladder, placement of a mold covered with a skin graft into the space followed by diligent postoperative vaginal dilatation.
- Vecchietti operation involves the creation of a neovagina via dilatation with a traction device attached to the abdomen, sutures placed subperitoneally by laparotomy, and a plastic olive placed in the vaginal dimple. It is a mixture of surgical and nonsurgical methods.
- Sigmoidal colpoplasty involves the creation of a neovagina by grafting a 12-18 cm long segment of sigmoid, It gives excellent results, although complete adequacy for coital function often requires prolonged care and support. 
Infertility is the most difficult aspect of disorder for patients to accept. Surgical treatment of aimed for normal genital appearance and sexual intercourse. In many cases fertility may be possible with assisted reproductive techniques. Oocytes are harvested, fertilized and implanted in surrogates. Uterine transplantation is performed in MRKH, but the surgery is still in the experimental stage. Until date, there have been some pregnancies in transplanted uteruses, but all these pregnancies have led to miscarriages. As ovaries are present, patients can have genetic children through in vitro fertilization with embryo-transfer to a gestational carrier (surrogate). Some may select to adopt. 
| Conclusion|| |
Mayer-Rokitansky-Kuster-Hauser syndrome should be suspected clinically in patients presenting with primary amenorrhea with normal secondary sexual characteristics. Ultrasound is a first line of investigation followed by MRI, which clearly depicts uterine, vaginal aplasia and status of ovaries and kidneys. It helps differentiating typical (Type A) from atypical (Type B) forms. Surgical options are given for those who wish to have normal sexual intercourse.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]