What Are the Symptoms of MRKH?

There are two types of MRKH syndrome, and symptoms vary greatly from one woman to another. Symptoms may include failure to begin menstrual cycles (primary amenorrhea), infertility, difficulty having sexual intercourse, painful intercourse, failure of the kidneys to develop properly (renal adysplasia), and other abnormalities.

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. 

There are two types of MRKH syndrome, and symptoms vary greatly from one woman to another. 

Females with MRKH syndrome type 1 (also called Mullerian aplasia) experience normal secondary sexual development including breast development, armpit and pubic hair growth, and increased body fat around the hips and other areas. Sex steroid levels, female sexual identification, and libido are all normal. Only the reproductive organs are affected in type 1. 

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
  • Increased susceptibility to urinary tract infections (UTIs)
  • Abnormal accumulation of urine in the kidney due to obstruction (hydronephrosis)
• Skeletal malformations, mainly in the vertebrae, that can cause:
  • Shortness of the neck
  • Limited neck motion
  • Abnormally low hairline (Klippel-Feil syndrome)
  • Asymmetric, fused or wedge vertebra
  • Malformed or missing ribs
  • Abnormal sideways curvature of the spine (scoliosis)
  • Elevation of the shoulder blade 
  • Abnormalities of the head and face 
    • Abnormally small jaw (micrognathia)
    • Cleft lip
    • Cleft palate 
    • Underdevelopment of one side of the face causing facial asymmetry
• Hearing impairment/hearing loss
• Malformed ears
• Rare abnormalities 
  • Heart malformations 
    • Hole in the heart between the two upper chambers of the heart (atrial septal defects)
    • Narrowing of the pulmonary valve (pulmonary valvular stenosis) 
    • Tetralogy of Fallot, a rare grouping of four different heart defects
  • Abnormalities of the extremities
    • 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)