pathoscribe

Written by Farah Yasmin Binti Firdaus Suffian | Art by Farah Yasmin Binti Firdaus Suffian

For some, puberty is predictable. For others, it’s a puzzle that their body refuses to solve. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian dysgenesis, is a rare congenital disease affecting approximately 1 in 5000 females globally. Characterised by the absence or underdevelopment (aplasia or agenesis) of the uterus and, in some cases, the vagina, individuals with MRKH typically exhibit a normal female karyotype (46XX), intact endocrine function, and a fully developed female secondary sexual characteristics, including breast development, hip widening, and pubic hair growth. However, the defining feature of MRKH syndrome is the absence of menstrual cycles, a condition known as primary amenorrhea.

While its exact cause remains unknown, theories such as the consumption of substances like diethylstilbestrol (DES) and tholidominde, which have teratogenic effects, mightcontribute to the development of MRKH syndrome. Others point to genetic factors, such as mutations in the WNT4 gene that could give rise to the abnormal development of the Müllerian ducts, the embryonic structures that form the uterus, upper vagina and fallopian tubes. 

MRKH syndrome is classified into 2 types – Type 1, which typically presents itself with uterovaginal agenesis and symptoms such as painful or difficult sexual intercourse and reduced vaginal width and depth. On the other hand, type 2 predominantly affects someone extravaginally, which includes their fallopian tube, kidney (e.g., complications or failure due to abnormal formation), skeletal system (most commonly spinal abnormalities), and in some, causes minor hearing loss and heart defects.

The absence of the uterus in MRKH syndrome can result in uterine factor infertility (UFI), which can have profound psychological consequences. A 2020 study highlighted the emotional toll of MRKH syndrome, revealing that 75.2% of the participants experienced depressive symptoms, with 34% reporting moderate to severe levels of depression. 

Diagnosing MRKH syndrome typically begins with transabdominal ultrasonography, as the first-line investigative tool to assess the pelvic anatomy. However, for a more precise and detailed assessment, an abdomino-pelvic MRI is often employed. Current treatments for MRKH syndrome focus on creating a functional vagina, either through non-surgical or surgical methods. Non-surgical approaches, such as the Franck’s dilator method, involve using vaginal dilators (e.g., Hegar candles) on the perineal dimple for at least 20 minutes daily to gradually increase vaginal length and diameter, boasting a success rate of 78-92%. Surgical options include vaginoplasty techniques like the Abbe-McIndoe operation, sigmoidal colpoplasty, and the Vecchietti procedure, where a functional vagina is created using skin grafts or bowel segments. Post-surgery, patients often require the use of dilators and lubricants to maintain vaginal functionality. These treatments aim to address both anatomical and functional aspects of MRKH syndrome, offering patients an improved quality of life. 

In conclusion, Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome presents unique challenges that extend beyond physical characteristics to emotional and psychological well-being. While significant progress has been made in diagnosis and treatment, the condition emphasizes the value of holistic care that addresses both medical and mental health needs. Continued research and innovation hold promise for further improving outcomes and quality of life for individuals living with MRKH syndrome. 

Works Cited:

1. Ray U., Adhikari S., Dhital R., Shrestha S., Shah S., Poudel S., et al. Mayer-Rokitansky-Kuster-Hauser Syndrome: A rare case report from Nepal. Ann Med Surg (Lond). 2022 Sep 16;82:104725. DOI: 10.1016/j.amsu.2022.104725
2. Chen N., Song S., Duan Y., Kang J., Deng S., Pan H., et al. Study on depressive symptoms in patients with Mayer-Rokitansky-Kuster-Hauser syndrome: an analysis of 141 cases. Orphanet J. Rare Dis. 2020 May 24. 121 (2020). DOI: https://doi.org/10.1186/s13023-020-01405-9
3. Nguyen BT., Dengler KL., Saunders RD. Mayer-Rokitansky-Kuster-Hauser Syndrome: A Unique Case Presentation. Mil. Med. 2018 May;183:e266-269. DOI: https://doi.org/10.1093/milmed/usx066
4. Penn Medicine. Mayer-Rokitansky-Kuster-Hauser Syndrome. University of Pennsylvania. Available from: https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/mayer-rokitansky-kuster-hauser-mrkh-syndrome#