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Condition report · Sexual Health

MRKH Syndrome

Conditions in which the uterus and upper vagina do not develop, a common cause of absent periods. A genetic cause is found in only a minority of cases.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Müllerian aplasia, including Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

MRKH syndrome affects about 1 in 4,500 women.

Absent or underdeveloped uterus and upper vagina with typically normal ovaries, sometimes with kidney or skeletal anomalies, associated with variants in WNT4, TBX6, LHX1, HNF1B and GREB1L.

What a diagnosis changes

A WNT4 diagnosis indicates hyperandrogenism needing management, and associated kidney anomalies warrant renal imaging.

Genes analysed

Also known as

aplasia of the Mullerian ducts; aplasia of the Müllerian ducts; Mullerian duct failure; Müllerian duct failure

Includes 8 related subtypes ↓
  • Mayer-Rokitansky-Kuster-Hauser syndrome
  • Mayer-Rokitansky-Kuster-Hauser syndrome type 1
  • Mayer-Rokitansky-Küster-Hauser syndrome type 2
  • mullerian aplasia and hyperandrogenism
  • partial bilateral aplasia of the mullerian ducts
  • pseudounicornuate uterus
  • true unicornuate uterus
  • unilateral aplasia of the mullerian ducts
MONDO:0019128Orphanet 73217MedGen 98466

Limitations

  • A single-gene cause is found in fewer than 10% of cases. Recurrent deletions (such as 17q12, which includes HNF1B) require copy-number analysis and may be missed.

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