Mayer–Rokitansky–Küster–Hauser syndrome

Also known as: MRKH syndrome; Müllerian agenesis

Congenital absence of uterus and upper vagina with normal ovaries and 46,XX karyotype.

Medical 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

Etiology & mechanism

Developmental failure of the Müllerian ducts.

Gene(s) involved (5)

GREB1LHNF1BLHX1TBX6WNT4

Symptoms & signs (7)

absent uteruscyclic abdominal painnormal secondary sexual characteristicsprimary amenorrhearenal anomaliesshort vaginaskeletal anomalies

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.