MRKH syndrome
Generally, women with MRKH syndrome pee the same way that other women without the disorder do because the opening through which the urine is voided is typically not affected.

Generally, women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome pee the same way that other women without the disorder do because the opening through which the urine is voided (urethral opening) is typically not affected.

MRKH syndrome is a rare congenital disorder characterized by aplasia of the uterus and the upper two-thirds part of the vagina in women with a normal female karyotype (46, XX) and normal secondary sexual characteristics. MRKH syndrome, also referred to as Müllerian aplasia or Müllerian agenesis, is prevalent in approximately 1 in 4,000 to 5,000 newborn girls.

Women with MRKH have normal functioning ovaries and secondary sexual characteristics, such as pubic hair and breasts development, but they do not experience menstrual cycles (amenorrhea). Because of this, these women have uterine factor infertility due to an absent or underdeveloped uterus, making it impossible to carry a baby. However, having healthy ovaries makes it possible for them to have a biological child through gestational surrogacy. Uterine transplantation can also help women with MRKH syndrome to carry their children.

Different types of Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome exists in the following two types: 

  • MRKH syndrome type I or isolated uterovaginal aplasia: This syndrome is characterized by the congenital absence of the uterus and the upper two-thirds part of the vagina, but other organs are not affected.
  • MRKH syndrome type II or uterovaginal aplasia associated with other malformations: This type of syndrome includes a congenital absence of the uterus and the upper two-thirds part of the vagina along with associated abnormalities in other organs (such as the ovaries, fallopian tubes), as well as renal anomalies. Other associated extra-genital malformations include abnormalities of the kidneys, skeletal system, auditory system and heart.

What causes Mayer-Rokitansky-Küster-Hauser syndrome?

The exact cause of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is not known. The reproductive abnormalities of MRKH syndrome occur due to the incomplete development of the Müllerian duct, which develops into the uterus, fallopian tubes, cervix and upper part of the vagina in the embryo.

Researchers believe that a combination of genetic and environmental factors contributes to the development of MRKH syndrome. Some researchers have proposed that the abnormal gene can be inherited from either of the parents or can be the result of a new mutation, causing gene change in the affected individual. Polygenic multifactorial inheritance, which involves the interaction of many genes, with each gene contributing a little, has also been proposed as a cause of MRKH syndrome.

What are the symptoms of MRKH?

Primary amenorrhea (non-initiation of menstruation) by 16 years of age with normal secondary sexual characteristics is often one of the first signs of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Symptoms of MRKH type I include:

  • Reduced vaginal width and depth
  • Painful or difficult intercourse
  • Patients may experience bodily changes associated with menstruation. They may have cyclic pelvic pain due to cyclic endometrial shedding, which happens due to normal ovarian function and hormone levels.

Symptoms of MRKH type II are similar to type I, but may additionally include:

  • Kidney failure or complications due to horseshoe kidney formation, abnormal positioning of kidneys or a missing kidney
  • Frequent urinary tract infections
  • Urinary incontinence
  • Skeletal system abnormalities
  • Vertebral anomalies commonly scoliosis
  • Mild hearing loss
  • Heart defects
  • Rarely digital anomalies (affecting the fingers), such as syndactyly and polydactyly
  • Other organ-related complications

SLIDESHOW

Pelvic Pain: What's Causing Your Pelvic Pain? See Slideshow

How is Mayer-Rokitansky-Küster-Hauser syndrome diagnosed?

Test and procedures to diagnose Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome include:

  • Medical history: The doctor will review the patient's medical history.
  • Physical examination: The doctor might use a device or gloved finger to gauge the vagina’s depth.
  • Ultrasound: The ultrasound can show the absence of the uterus and can also confirm associated anomalies of ovaries, fallopian tube and renal tract.
  • MRI: Magnetic resonance imaging is a useful diagnostic tool to diagnose MRKH syndrome.
  • Other tests: Renal ultrasonography, spine radiography, heart echography and audiogram may be done to help check for associated malformations.

How is Mayer-Rokitansky-Küster-Hauser syndrome treated?

Treatment and fertility options for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome depend on the patient’s condition. However, the available surgical and non-surgical options include:

  • Self-dilation: Self-dilation by using a small rod prescribed by the doctor. Self-dilation may create a vagina without surgery. The rod expands the existing vagina to create a vagina over time.
  • Vaginoplasty: If self-dilation doesn’t provide the desired result, a neo-vagina can be created surgically for sexual function. A surgeon creates a functional vagina using a skin graft from the buttocks or a portion of the bowel.
  • Uterus transplant: Transplant of a healthy uterus from a donor can help women with uterine factor infertility to carry and deliver a child.
  • In vitro fertilization: In vitro fertilization of one's own oocytes followed by surrogate pregnancy may give a woman with uterine factor infertility a chance at motherhood.
  • For the associated malformations in MRKH type II, specific medical care is directed toward the anomalies.
  • Psychological support and counseling are recommended for affected women.

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Medically Reviewed on 7/28/2021
References
Kirsch AJ. Mayer-Rokitansky-Kuster-Hauser Syndrome. Medscape. https://emedicine.medscape.com/article/953492-overview

Morcel K, Camborieux L; Programme de Recherches sur les Aplasies Müllériennes, Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet J Rare Dis. 2007;2:13. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832178/