Mullerian agenesis
Mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) is congenital failure of paramesonephric duct development in a 46,XX individual, producing primary amenorrhea with absent uterus and cervix, a short or absent vagina, and normal ovarian function, managed with vaginal dilator therapy and psychosocial support.
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What this article covers
- Overview
Congenital absence of the uterus, cervix, and upper vagina from failed paramesonephric (Mullerian) duct development in a chromosomally and gonadally normal female, also called Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
- Epidemiology
An uncommon but not rare cause of primary amenorrhea, encountered whenever a patient with normal secondary sexual development is worked up for failure of menses.
- Risk factors
No confirmed environmental or maternal exposure risk factor is established; the great majority of cases arise sporadically with no identifiable cause.
- Pathophysiology
The paramesonephric (Mullerian) ducts fail to develop or canalize between the sixth and tenth weeks of gestation, the period when they normally form the fallopian tubes, uterus, cervix, and upper two-thirds of the vagina.
- Clinical features
Primary amenorrhea at or beyond 15 years of age with normal secondary sexual characteristics already present, the hallmark that triggers evaluation; breast development (Tanner stage 4 or 5) and…
- Differential diagnosis
Complete androgen insensitivity syndrome: also presents with primary amenorrhea, normal breast development, and absent uterus, but has a 46,XY karyotype, male-range testosterone, sparse or absent…
- Diagnosis
This is a clinical diagnosis established by the triad of primary amenorrhea, normal secondary sexual characteristics, and an absent or rudimentary uterus with a short or absent vagina on examination…
- Management
First, provide psychosocial support and counseling at diagnosis, since the finding carries significant emotional impact around infertility and body image in an adolescent; refer to a mental health…
- Complications
Infertility from absence of the uterus, the most consequential and unavoidable complication, addressed only through gestational surrogacy or adoption since the patient's own oocytes remain viable.
- Prognosis
Normal life expectancy and normal ovarian, endocrine, and sexual function, since only the Mullerian-derived structures are affected.
- Prevention
There is no known modifiable risk factor for Mullerian agenesis itself, since the great majority of cases are sporadic with no identified causative exposure; prevention here targets its associated anomalies and complications.
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Related articles
- Evaluation of primary amenorrhea
Primary amenorrhea is the absence of menses by age 15 years with normal growth and secondary sexual development, or by age 13 years without it, and is worked up by a fixed algorithm that branches on secondary sexual characteristics, uterine presence, and gonadotropin level, then treated by cause with titrated estrogen replacement, surgery, or dilators. Genetic and anatomic causes account for the great majority of cases, led by gonadal dysgenesis (Turner syndrome) and mullerian agenesis.
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