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Mayer Rokitansky Kuster Hauser syndrome
This condition is one of the rare disease
Mayer Rokitansky Kuster Hauser syndrome is a spectrum of Mullerian duct anomalies
Features of Mayer Rokitansky Kuster Hauser syndrome
This disease is characterized by congenital aplasia of upper 2/3 of the vagina and the uterus.
Classification of MRKH syndrome
This disease classified as
- MRKH syndrome type 1 – This is related to isolated utero-vaginal aplasia
- MRKH syndrome type 2 – This is related to utero-vaginal aplasia associated with other malformations
Synonyms of Mayer Rokitansky Kuster Hauser Syndrome
- congenital absence of the uterus and vagina (CAUV)
- genital renal ear syndrome (GRES)
- MRKH
- MRKH syndrome
- Mullerian agenesis
- Mullerian aplasia
- Rokitansky syndrome
Symptoms of Mayer Rokitansky Kuster Hauser syndrome
Very frequent Symptoms
- Aplasia of the uterus
- Hypoplasia of the vagina
Frequent Symptoms
- Abnormality of the kidney
Occasional Symptoms
- Abnormal form of the vertebral bodies
- Abnormal sacrum morphology
- Ectopic kidney
- Horseshoe kidney
- Unilateral renal agenesis
- Vertebral fusion
- Vertebral segmentation defect
What causes Mayer Rokitansky Kuster Hauser syndrome
- The exact cause of MRKH syndrome is mostly unknown
- Ongoing research has shown that involvement of certain environmental and non-genetic factors such as gestational diabetes or even exposure to a teratogen might be the sporadic causes of this syndrome