Endocrinology · Endocrinology / Reproductive endocrinology
Mayer–Rokitansky–Küster–Hauser syndrome
also: MRKH syndrome; Müllerian agenesis
Congenital absence of uterus and upper vagina with normal ovaries and 46,XX karyotype.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Reproductive endocrinology
- Sex & age distribution
- Male: not applicable; Female: affected only; Children: yes, diagnosed at puberty
- Gene(s) involved
- GREB1L, HNF1B, LHX1, TBX6, WNT4
- Alternative names & eponyms
- MRKH syndrome; Müllerian agenesis
Etiology & mechanism
Developmental failure of the Müllerian ducts.
Gene(s) involved (5)
Symptoms & signs (7)
In plain terms, someone with Mayer–Rokitansky–Küster–Hauser syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
2 shared
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absent uterus, primary amenorrhea
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renal anomalies
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renal anomalies
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renal anomalies
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primary amenorrhea
1 shared
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primary amenorrhea
1 shared
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renal anomalies
1 shared
Perrault syndrome
primary amenorrhea
Shares genes with
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