Fact-sheet: Uterine agenesis
Updated on 10/06/2017 at 4:21 PM
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Definition
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and upper (two-thirds) vagina, in women with normal development of secondary sexual characteristics and a normal 46,XX karyotype.
Clinical features
Primary amenorrhea occurring in young women who otherwise have normally developed secondary sexual characteristics, normal external genitalia, normal ovarian function, and a normal 46,XX karyotype with no apparent chromosomal abnormalities.
Ultrasound
First-line examination that may be sufficient for diagnosis:
-Absent uterus
-Incomplete/malformed or absent vagina
-Normal ovaries
-Frequent associated renal anomalies
MRI
More precise mapping of the anomaly:
pelvic MRI, T2-weighted axial and sagittal sequences.
-Absent uterus
-Incomplete/malformed or absent vagina
-Normal ovaries
-Frequent associated renal anomalies
Management
Imaging workup often supplemented by diagnostic laparoscopy, though not systematic.
Treatment of vaginal aplasia consists of neovagina reconstruction, allowing the patient to have a normal sex life.
Classification
Type 1: isolated MRKH
Type 2 or MURCS association (MUllerian Renal Cervicothoracic Somite): associated with other malformations, these anomalies may involve the kidney, spine, and to a lesser extent the otologic system or heart.
Differential diagnosis
Isolated vaginal and/or uterine malformations