Diagnosis of MRKH includes a genetic evaluation that includes a chromosomal analysis to confirm a normal 46 XX female chromosomes. Additional studies will include a hormonal evaluation (however, if the patient has normal breast development and other normal female appearance this typically means the ovaries are functioning and producing normal female hormones). Additional testing includes an Ultrasound of the pelvis and the kidneys (or an IVP which is a dye test with x-rays to evaluate the kidneys) and/or an MRI of the pelvis and abdomen.
CRITERIA FOR DIAGNOSIS – MRKH
• Normal female appearance
• Normal external genitalia (i.e. Breasts, Vulva)
• Absence of vaginal canal
• Absent or rudimentary Uterus
• Normal functioning female ovaries
MRKH syndrome is often associated with urinary tract, skeletal and auditory anomalies. The incidence of urinary tract anomalies is as high as 40% of cases and can involve just having one kidney, having a pelvic kidney (one kidney is displaced down in the pelvis but may still function normally), and having duplication of the renal pelvis or ureters (i.e. having two tubes instead of one bringing urine from the kidney to the bladder). Skeletal anomalies are found in 10-12% of cases and can involve abnormalities of the spine or vertebrae, ribs or limbs. Finally, middle ear anomalies including hearing loss can also be associated. None of these conditions is life-threatening, however, it is important to evaluate and be aware of any of these anomalies.
MRKH DIAGNOSTIC EVALUATION
• Chromosome analysis
• Ultrasound of pelvis and kidneys
• IVP (kidney dye test) and spine X-ray
• MRI of pelvis and abdomen (may replace some of the above tests)
Diagnosis is usually delayed until adolescence when the young woman does not have her period. The confirmation of the diagnosis is inevitably a psychological shock for the patient and her family. The absence of a vagina has a profound impact on the young woman’s sense of femininity, her future sexuality, thoughts about her future ability to bear children and have a family and the immediate feelings of shock with being told she does not have a normal vagina and/or uterus. She inevitably will feel as if she is not normal and is typically at a very fragile age emotionally, i.e. her teen years and certainly will be concerned with how others will feel about her (if they know or would find out) or look at her.
Counseling and support during this timeframe will be crucial and there are support groups and psychologists/psychiatrists that are trained to assist during this time frame and help the patient cope and understand her condition. Helpful support information about the condition is also available. Typically, vaginal agenesis patients do not have a functioning uterus and cannot become pregnant. Most have normal functioning ovaries and can become biological parents through in-vitro fertilization of their own eggs with the pregnancy carried by a surrogate mother.