What Does MRKH Syndrome Look Like? Signs & Features

MRKH syndrome may present in two forms:

1. MRKH syndrome type I: Only the reproductive organs are affected. Other organs are normal.
2. MRKH syndrome type II: Kidneys may be abnormally formed or positioned. One kidney may fail to develop (unilateral renal agenesis). There may be skeletal and spinal anomalies as well, along with hearing loss or heart defects.

MRKH syndrome is estimated to affect 1 in about 4,000 to 5,000 women worldwide. The exact cause is unknown, although it appears to be a result of a combination of genetic and environmental factors.

One theory is that certain medications during pregnancy or maternal diseases such as gestational diabetes may increase the risk of MRKH syndrome in the baby, but this claim has not been proven.

Some researchers have proposed that in familial cases, the disorder is perhaps inherited as an autosomal dominant trait, which means that just one copy (allele) of the gene is sufficient to cause the disease.

MRKH syndrome type I

MRKH syndrome type I is also known as isolated Mullerian aplasia or Rokitansky sequence. Affected women may present with:

• Absence of menstrual period (amenorrhea)
• Dimple in place of a vagina
• Difficulty attempting sexual intercourse due to the shortness of the vagina
• Pain during sex

The severity of MRKH syndrome type I varies greatly from one woman to another. In many cases, the uterus and/or vagina is completely absent. In rare cases, there is only narrowing (atresia) of the upper portion of the vagina (a vaginal dimple) and an underdeveloped uterus. In some cases, the fallopian tubes may be affected. The ovaries of women with MRKH syndrome are always unaffected.

Sex hormone levels, female sexual identification, and level of sexual desire (libido) are all normal.

MRKH syndrome type II 

Women with MRKH syndrome type II may present with:

• Renal (kidney) complaints such as:
  • Increased incidence of urinary tract infections and kidney stones
  • Abdominal pain
  • Growth deficiency
  • Kidney failure
  • Blood in urine
• Missing and/or fused neck vertebrae, which can cause:
  • Short neck
  • Limited movements
  • Abnormally low hairline
• Abnormal sideways curvature of the spine (scoliosis)
• Elevation of the shoulder blade (scapula)
• Abnormally small jaw (micrognathia)
• Cleft lip
• Cleft palate
• Underdevelopment of one side of the face causing facial asymmetry
• Structural abnormalities of the middle ear, which may cause:
  • Conductive-type hearing loss due to problems with sound conduction
  • Sensorineural hearing loss due to impaired ability of the auditory nerve to transmit sensory input to the brain

Rare symptoms may include:

• Absence of a portion of one or more fingers or toes (ectrodactyly)
• Webbing of the fingers or toes (syndactyly)
• Duplicated thumb and absence of the long, thin bone of the forearm (absent radius)

Heart defects may include:

• Atrial septal defects (a hole in the heart)
• Narrowing of the pulmonary valve (pulmonary valvular stenosis)
• Tetralogy of Fallot, a rare grouping of four heart defects

Natural pregnancy is not possible in women with MRKH syndrome due to an absent or underdeveloped uterus. Because these women have functioning ovaries, however, they may be able to have children through assisted reproduction or surrogacy. 

Assisted reproduction methods vary on a case-to-case basis. Because MRKH syndrome has a genetic basis, there is a risk of passing the condition to the baby, and this must be discussed before making plans to have a baby. 

Another option is uterus transplantation. As of 2020, about 100 uterus transplants have been conducted throughout the world. Of these, about 30 have been in the United States.

In November 2019, a woman enrolled in the UNTIL trial successfully delivered a second baby in the United States to be born following transplantation of a uterus from a deceased donor. Recent trials have attempted to explore donation from both living and deceased donors—to expand the pool of organs available for transplantation.

Apart from fertility counseling and assistance, affected women are taught to self-dilate their vaginas without surgery by using small rods of gradually increasing size. 

Vaginoplasty is a surgical option if self-dilation doesn’t achieve desired results. The procedure involves creating a functional vagina using a skin graft from the buttocks or a portion of the bowel. A dilator and artificial lubricant will be needed during intercourse to help achieve and maintain a functional vagina.

Other treatment options depend on coexisting conditions and often require coordinated efforts of a team of specialists including internists, gynecologists, kidney specialists (nephrologists), endocrinologist, orthopedic surgeons, plastic surgeons, physical therapists, psychiatrists, and other healthcare professionals.