MRKH, or Mayer-Rokitansky-Küster-Hauser syndrome, is a rare condition characterized by the failure of the uterus and the vagina to develop properly in women who have normal ovarian function and normal external genitalia.
Females with MRKH syndrome do not have a functional uterus so they cannot become pregnant and bear children. They are infertile. However, some women with MRKH still have fully-functioning ovaries and fallopian tubes, which means they can still have their own child using in vitro fertilization of their own eggs and surrogate pregnancy.
What Are Symptoms of MRKH?
There are two types of MRKH syndrome, and symptoms vary greatly from one woman to another.
In females with MRKH syndrome type 1 (also called Mullerian aplasia) only the reproductive organs are affected.
Symptoms of Mayer-Rokitansky Küster-Hauser syndrome type I include:
- Failure to begin menstrual cycles (primary amenorrhea)
- Infertility due to absence of the uterus and properly developed fallopian tubes
- Difficulty having sexual intercourse due to the shortness of the vagina
- Pain during intercourse
Mayer-Rokitansky Küster-Hauser syndrome type II, also called (Mu)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies or MURCS association, affects other parts of the body in addition to reproductive organs. Symptoms of type II may include:
- Failure of the kidneys to develop properly (renal adysplasia), that can cause:
- Growth deficiency
- Kidney stones
- Urinary tract infections (UTIs)
- Abnormal accumulation of urine in the kidney due to obstruction
- Skeletal malformations, mainly in the vertebrae, that can cause:
- Neck shortness
- Limited range of motion in the neck
- Abnormally low hairline
- Asymmetric, fused or wedge vertebra
- Malformed or missing ribs
- Abnormal curvature of the spine (scoliosis)
- Elevated shoulder blade
- Head and face abnormalities
- Abnormally small jaw
- Cleft lip and/or palate
- Underdevelopment of one side of the face causing facial asymmetry
- Hearing impairment/hearing loss
- Malformed ears
- Rare abnormalities
- Heart malformations
- Abnormalities of the extremities
How Is MRKH Diagnosed?
MRKH syndrome is diagnosed based upon a patient history along with identification of characteristic symptoms.
Tests used to confirm a diagnosis include:
- Magnetic resonance imaging (MRI)
- Transabdominal ultrasonography
- Karyotyping to examine chromosomes
- Spinal radiography
- Heart echography for suspected heart abnormalities
- Audiogram if there is suspected hearing impairment
What Is the Treatment for MRKH?
Treatment MRKH (Mayer-Rokitansky-Küster-Hauser) syndrome is aimed at the specific symptoms each individual patient experiences.
Counseling is recommended for women with MRKH syndrome after a diagnosis and before treatment because the diagnosis can cause anxiety and psychological distress.
Medical treatment for MRKH may include:
- Undeveloped vagina (vaginal aplasia) is treated by creating a neovagina for sexual intercourse
- Nonsurgical techniques include vaginal dilators
- Plastic surgery to create an artificial vagina (vaginoplasty)
- Antibiotics for urinary tract infections (UTIs)
- Treatment of kidney stones
- Reconstructive surgery for skeletal abnormalities
- Physical therapy for bone deformities
