Mayer Rokitansky Kuster Hauser syndrome

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
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