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CASE REPORT
Ahead of print publication  

Mayer–Rokitansky–Küster–Hauser syndrome: A case report


1 Department of Education, Health, and Wellbeing, University of Wolverhampton, Wolverhampton, UK
2 Department of Sexual and Reproductive Health, Medecins Sans Frontieres, Arusha, Tanzania
3 Arusha International Conference Centre, Arusha, Tanzania
4 Department of Emergency Medicine, Muhimbili National Hospital, Dar es Salaam, Tanzania
5 Haydom Lutheran Hospital, Arusha, Tanzania

Date of Submission24-Jun-2022
Date of Acceptance25-Jul-2022
Date of Web Publication26-Aug-2022

Correspondence Address:
Alen Kinyina,
Department of Education, Health, and Wellbeing, University of Wolverhampton, Wolverhampton
UK
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajiac.ajiac_10_22

  Abstract 

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital disorder that occurs during fetal development. MRKH is characterized by the absence of the uterus and an underdeveloped vagina. In addition, although a woman has a female phenotype and functional ovaries, she does not experience menstrual cycles. We report a rare case of an 18-year-old female who had never experienced menstrual cycles since she attained thelarche and growth of pubic hair by age 13. In assessment and investigations, it was confirmed that the patient had no uterus and the vagina was poorly developed. However, she had normal functional ovaries and no abnormalities were detected in other systems. The multidisciplinary team provided counseling regarding the nature of the abnormality, its implications for sexual life, infertility, and the possible alternatives to manage the anomaly. Colovaginoplasty was opted and the patient was managed successfully. Three years later, the patient was married and she reported having a satisfactory sexual intercourse. Primary amenorrhea in a young woman with well-developed secondary sexual characteristics and functional ovaries is a suspicion of MRKH syndrome. Confirmatory investigations should be conducted. Colovaginoplasty provides a satisfactory sexual life for the patient.

Keywords: Colovaginoplasty, Müllerian aplasia, Rokitansky syndrome, vagina agenesis



How to cite this URL:
Kinyina A, Phillipo D, Chamos SM, Moremi HR, Justine S. Mayer–Rokitansky–Küster–Hauser syndrome: A case report. Afr J Infertil Assist Concept [Epub ahead of print] [cited 2022 Sep 26]. Available from: https://www.afrijiac.org/preprintarticle.asp?id=354806




  Introduction Top


Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital malformation affecting the female gender. It is defined by agenesis of the uterus and vagina with normal ovaries.[1] MRKH is linked to the defect in the migration of the Müllerian ducts to the urogenital sinus during embryonic life which results to the inability of the uterus and vagina to form completely.[2] During embryologic development, the anti-Müllerian hormone plays a critical role in developing the reproductive organs.[2] At puberty, a female with MRKH syndrome develops the normal secondary sexual features such as growth of breasts and axillary and pubic hair, although there is no menstruation period (primary amenorrhea).[1],[2],[3] Failure to commence menstruation is clinically a first symptom of the MRKH condition.[1] The anomaly is congenital but is usually not recognized until puberty.[3]

The syndrome is not frequently diagnosed or reported, making it difficult to have clear prevalence. However, it is estimated that 1 in 4500–5000 women is affected with MRKH syndrome.[2] The women with MRKH syndrome have both or at least one normal ovary and experience normal ovulation.[4] The vaginal canal is usually shortened, making sexual intercourse painful and difficult or impossible in some cases.[5] The specific cause of MRKH syndrome is unknown; however, there is some evidence that it results from chromosomal disorders.[3]

Depending on the severity, MRKH is divided into two types. Type 1 occurs as isolated whereby only the structures which develop from the Müllerian duct are affected including the uterus, cervix, and upper vagina.[6] In type 2, organs that develop from Müllerian duct are affected, with additional disorders in other systems including the skeletal and renal systems, especially the kidneys.[3],[5],[7]

The treatment of MRKH is difficult and expensive where it includes surgical procedures to create a neovagina.[1],[2] For women with MRKH to conceive, some intervention should be done such as in-vitro fertilization or intracytoplasmic sperm injection with gestational surrogacy.[1] Due to the general features of the condition, MRKH syndrome can pose severe difficulties psychologically; therefore, a patient should seek mental health counseling.[2] Little is known about the syndrome and we report this case due to its rarity.


  Case Report Top


An 18-year-old female self-reported a history of primary amenorrhea. She had a well-developed female phenotype, and normal secondary sexual characteristics and the developmental milestones were typical. She had no historical background of systemic diseases or chronic use of medications. The patient was not experiencing cyclic pelvic pain. The onset of breast development (thelarche) and growth of pubic and axillary hair began at age 13. The patient reported no history of penetrative sexual intercourse.

She was the third child in a family of four children and there was no family history of congenital anomaly or stunted growth. On physical assessment, height was 143 cm and weight was 48.5 kg with an average body mass index of 23.7 kg/m2. Her breasts and pubic hair were well developed (Tanner stage 5).

Bimanual pelvic examination revealed a distal vagina which was narrow, shortened with no palpable cervix. The blood investigations were normal [Table 1]. The transabdominal ultrasonography revealed a completely absent uterus and the upper two-thirds of the vaginal orifice. Both ovaries were in place and of normal size, and no defect was noted in the kidneys.
Table 1: Blood investigations results

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The case was submitted to the telemedicine experts for further review which included the ultrasound images, video clips, and patient history. Magnetic resonance imaging (MRI) was performed. MRI of the pelvis revealed the vagina with blind ends and a narrow lumen. The vaginal septum was not revealed, and the endometrial cavity (uterus) and cervix were not present. Two rudimentary horns were interconnected at the midline with a fibrous septum and the ovaries were normal.

A diagnosis of MRKH syndrome was confirmed. A team of reconstructive surgeons, clinical psychologist, gynecologists, radiologists, and endocrinologists collaborated to counsel the patient. The counseling was done regarding the diagnosis, the implications for sexual life, fertility, and the alternatives available to manage the anomaly. After 3 months of multidisciplinary consultations, a sigmoid colovaginoplasty was performed. The step-by-step procedures are described briefly:

Pre-operative

The bowel preparation was performed with a residue-free diet and enemas were started 48 h prior to surgery. Prophylactic antibiotics with ceftriaxone and metronidazole were also started before surgery. The bladder catheter was inserted in place, and the patient was positioned in supine and under general anesthesia.

Abdominal time

A Pfannenstiel incision was made. The length and vascularity of the sigmoid loop were determined. Anterior dissection was performed to separate the vestigial remnants and the base of the bladder. Another dissection was done posteriorly between the vestigial remnants and the anterior surface of the rectum. This technique helped to identify clearly and expose the vaginal dimple. The surgeon selected and sectioned the lower and upper ends of the sigmoid colon of almost 16 cm. The graft was rinsed with normal saline.

Vaginal time

The vaginal dimple was pushed back. The margin of the vaginal dimple was anastomosed with the lower margin of the colon. Closing of the colonic margin was performed with continuous vicryl suture. The colonic graft was secured to the pre-vertebrae ligaments to prevent prolapse. The surgery and post-operative recovery were remarkable. Three years later, she was married and reported to have a satisfactory sexual intercourse.


  Discussion Top


MRKH syndrome is a form of Müllerian aplasia.[1] Mullerian aplasia is caused by abnormal development of the Müllerian ducts, which are embryologic structures that develop into the uterus,  Fallopian tube More Detailss, cervix, and the upper part of the vagina.[1],[2],[3] The external genitalia and ovaries are present, but the uterus and tubes are absent or partially developed.[2] The diagnosis is often suspected during puberty when the female with well-developed breasts and pubic and axillary hair lacks menstrual periods.[5]

The diagnosis can be confirmed by transabdominal ultrasonography which can give images of vaginal agenesis and ovaries with or without follicles and confirm the presence or absence of a uterus.[7] The advantage of MRI is that it accurately measures the size and extent of the vaginal aplasia, thus making it possible to guide the choice of the most suitable treatment and surgical techniques.[1]

The consequences associated with the MRKH anomaly include urinary tract malformations, skeletal abnormalities, and painful sexual intercourse due to the partial absence of a vagina.[8] Sterility is a common feature for all women with Rokitansky syndrome because the absence of the uterus completely prevents conception.[7]

Rokitansky syndrome is not fatal, as the uterus and vagina do not perform vital functions. In contrast, it has a significant impact on sexual life. The woman with a partial vulva and fully developed clitoris can experience orgasms but penetration can be painful, or even impossible, due to the extremely small size of the vagina.[5] Due to the interference in sexual life and no possibility of pregnancy, Rokitansky syndrome can lead to significant psychological repercussions in patients.[1],[2],[3] Therefore, as soon as the diagnosis is confirmed, the patient should receive multidisciplinary care (as was done in this case).[1],[4] Joint psychological support is essential for patients and parents.

The standard non-surgical treatment for Rokitansky syndrome is vaginal dilation.[9] This non-surgical method known as Frank’s method involves creating a neovagina using dilators of different sizes that gradually dilate the vagina.[9] The ideal moment to start this treatment is when the patient wishes to start her sexual life.[8] Therapeutic education and psychological counseling are essential before the procedure.[1] Different surgical techniques can be proposed for creation of a vagina (vaginoplasty with a sigmoid graft, Vecchietti technique, and others).[1],[9] Vaginoplasty gives some benefits including a thick wall, big diameter, sufficient lubrication from mucosal secretions, and does not easily get traumatized.[5]

Both surgical and non-surgical treatments improve only the quality of the woman’s sexual life. If the woman has normal and functional ovaries, she should be aware that the absence of a uterus precludes the possibility of pregnancy, as the development of the embryo and fetus take place in the uterus.[8] Uterine transplantation could change the situation, but uterus transplant is rarely performed. The uterus is a highly vascularized organ, of which all blood vessels must be preserved for the transplant, this makes uterine transplantation exercise difficult and may entail additional risks to the donor.[10]


  Conclusion Top


MRKH in this case is characterized by absent uterus and underdeveloped vagina. The diagnosis of MRKH is better confirmed with aid of ultrasonography or MRI. Proper assessment is the cornerstone of MRKH management. The patient should benefit from multidisciplinary care including the endocrinologist, plastic surgeons, the gynecologists, and psychologists due to the difficulties of sexual life, implications for fertility, and childbearing. The colovaginoplasty surgical technique allows the patient to gain her physical integrity and access a normal sexual life.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Herlin MK, Petersen MB, Brännström M. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: A comprehensive update. Orphanet J Rare Dis 2020;15:214.  Back to cited text no. 1
    
2.
Fontana L, Gentilin B, Fedele L, Gervasini C, Miozzo M. Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Clin Genet 2017;91:233-46.  Back to cited text no. 2
    
3.
Lalatta F, Motta F, Restelli E, Bellini M, Miozzo M, Gervasini C, et al. Dysmorphologic assessment in 115 Mayer–Rokitansky–Küster–Hauser patients. Clin Dysmorphol 2015;24:95-101.  Back to cited text no. 3
    
4.
Egbe TO, Kobenge FM, Junette Arlette MM, Nyemb JE, Mbu RE. A case of Mayer–Rokitansky–Küster–Hauser syndrome in a low-resource tertiary hospital in Douala, Cameroon. SAGE Open Med Case Rep 2019;7:2050313X19830817.  Back to cited text no. 4
    
5.
Mungadi IA, Ahmad Y, Yunusa GH, Agwu NP, Ismail S. Mayer–Rokitansky–Küster–Hauser syndrome: Surgical management of two cases. J Surg Tech Case Rep 2010;2:39-43.  Back to cited text no. 5
    
6.
Deng S, He Y, Chen N, Zhu L. Spectrum of type I and type II syndromes and associated malformations in Chinese patients with Mayer–Rokitansky–Küster–Hauser syndrome: A retrospective analysis of 274 cases. J Pediatr Adolesc Gynecol 2019;32:284-7.  Back to cited text no. 6
    
7.
Oppelt P, Renner SP, Kellermann A, Brucker S, Hauser GA, Ludwig KS, et al. Clinical aspects of Mayer–Rokitansky–Kuester–Hauser syndrome: Recommendations for clinical diagnosis and staging. Human Reprod 2006;21:792-7.  Back to cited text no. 7
    
8.
Friedler S, Grin L, Liberti G, Saar-Ryss B, Rabinson Y, Meltzer S. The reproductive potential of patients with Mayer–Rokitansky–Küster–Hauser syndrome using gestational surrogacy: A systematic review. Reprod Biomed Online 2016;32:54-61.  Back to cited text no. 8
    
9.
Cai B, Zhang JR, Xi XW, Yan Q, Wan XP. Laparoscopically assisted sigmoid colon vaginoplasty in women with Mayer–Rokitansky–Küster–Hauser syndrome: Feasibility and short-term results. BJOG 2007;114:1486-92.  Back to cited text no. 9
    
10.
Robertson JA. Other women’s wombs: Uterus transplants and gestational surrogacy. J Law Biosci 2016;3:68-86.  Back to cited text no. 10
    



 
 
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