Description

Mayer-Rokitansky-Küster-Hauser syndrome, known as MRKH, is a sex development condition in females which causes parts of the vagina, cervix, and uterus to be underdeveloped or absent.

If you want to help improve medical research and psychological support for individuals with these conditions, you can donate to DSDFamilies (https://dsdfamilies.org/donate).

Sources

[1] NIH. (2020). Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference, National Library of Medicine.

[2] LOCAH. (2018). The Intersex Masterpost. Medium.

[3] Witchel, S. (2018). Disorders of sex development. Best Practice and Research in Clinical Obstetrics and Gynecology, 48, 3.

[4] CYWH. (2019). MRKH: General information for teens. Center for Young Women’s Health.

[5] Amies, AM., et al. (2018). Mullerian agenesis--diagnosis, management, and treatment. American College of Obstet & Gynec, 728.

[6] Ernst, M. (2016). The lived experience of MRKH, sharing health information with peers. Pediatric and Adolescent Gynecology, 29(2).

[7] Fontana, L., et al. (2017). Genetics of Mayer-Rokitansky-Kuster-Hauser syndrome. Clinical Genetics, 91, 233-246.

[8] Londra, L., et al. (2015). Mayer-Rokitansky-Kuster-Hauser syndrome, a review. International Journal of Women's Health, 7, 865-870.

[9] Pizzo, A., et al. (2013). Mayer-Rokitansky-Kuster-Hauser Syndrome. Embryology, Genetics and Clinical and Surgical Treatment. ISRN Obstetrics and Gynecology.

MRKH support groups and foundations:

[1] Beautiful You MRKH (https://www.beautifulyoumrkh.org)

[2] MRKH Connect (https://mrkhconnect.co.uk)

[3] Young Women's Health MRKH resources (https://youngwomenshealth.org/mrkh-al)

Transcript

Mayer-Rokitansky-Küster-Hauser syndrome, known as MRKH (and sometimes called Mullerian agenesis), is a sex development condition in females which causes parts of the vagina, cervix, and uterus to be underdeveloped or absent. Unlike Klinefelter's and Turner's syndrome, which are chromosomal conditions, the chromosomes of females with MRKH are the typical 46,XX. MRKH is one of the common DSDs, affecting about 1 in 4500 newborn girls--a rate of around 0.02% of births. Because the condition affects the development of the uterus and the vagina, only females can have MRKH.

At conception, the chromosome set begins with the typical 46,XX. While chromosomal conditions like Turner syndrome begin at conception, the physical anomalies of MRKH begin later in reproductive development.

Around the 8th week after conception, the 46,XX fetus undergoes gonadal differentiation. In the absence of SRY, transcription factors FOXL2, WNT4, and RSPO1 initiate and maintain gonadal differentiation into ovaries. With no testes present to activate anti-Mullerian hormone, the Mullerian structure develops uninhibited (forming the fallopian tubes, uterus, cervix, and upper part of the vagina). And with no testes to produce testosterone, the Wolffian structure (which would have formed the epididymis, vas deferens, and seminal vesicle) disintegrates.

With MRKH, a complex set of genetic and environmental changes halts further development of the Mullerian structure, often leaving the uterus, cervix, and the upper part of the vagina underdeveloped or absent. The degree to which these structures are affected depends on the individual, and the direct cause of MRKH is currently unknown. There is usually no inheritance pattern either: most cases of MRKH occur in females with no history of the condition in their family.

Even though the Mullerian structure is incomplete, the ovaries remain. With no SRY activation and no anti-Mullerian hormone, the fetus develops anatomy to support the production of large gametes. Thus, newborns with MRKH are females.

Cases of MRKH are almost never diagnosed at birth. The most common indicator of MRKH is that affected young women never start their periods. Thus, most diagnoses occur between 15 and 18 years old. The diagnostic process utilizes a pelvic ultrasound to see whether the uterus is present and an MRI to show more detailed imagery of the internal reproductive anatomy. Once diagnosed, the doctors will refer the patient to a pediatric or adolescent gynecologist. Because MRKH does not affect one's external appearance, medical imagery of the internal reproductive anatomy is one of the only ways to diagnose.

The presence of typical chromosomes (46,XX) means that girls with MRKH undergo normal puberty, just without periods due to the underdeveloped vagina or uterus. If born with an incomplete vagina but a typical uterus, women with MRKH are often able to become pregnant and carry children. If born with an incomplete or absent uterus, affected women will not be able to carry a baby. However, because most women with MRKH maintain ovarian function, their eggs can be artificially fertilized with a partner's or a donor's sperm.

There are important psychological issues to address if one is diagnosed with MRKH. As the Center for Young Women's Health writes, "It's not uncommon for young women to wonder if they are ‘really a girl' when they first learn that they are born with an incomplete vagina and uterus." While this is a common psychological fear with MRKH, patients should be reaffirmed that they are indeed females, with female reproductive anatomy and a female phenotype.

The most common treatment for MRKH is increasing the length of the vaginal canal, which is often underdeveloped. The choice of whether to have treatment is entirely up to the patient. Like all other patients with differences of sex development, girls and women with MRKH have control of their own bodies, and should never be forced or pressured into treatment by parents, a partner, or the medical team. As Center for Young Women's Health notes, "Your medical team has the responsibility of giving you information and resources to help you understand your reproductive health issues so YOU can make informed decisions. Your parents have the responsibility of helping you get medical care and helping you obtain privacy. And you have the responsibility to learn more about MRKH." Such a call to responsibility and bodily autonomy applies to all those affected by DSDs.

In all, females with MRKH have typical 46,XX chromosomes and typical ovarian function but lack the complete Mullerian structures to carry children. Affected females will often experience shortness of the vaginal canal and an underdeveloped uterus. Though life-changing, a diagnosis of MRKH can be addressed with professional medical teams, counseling, and loving support from parents and peers.

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© 2020 Zachary A. Elliott, All Rights Reserved.