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At a glance

It is a syndrome characterized by congenital absence of vagina, rudimentary cornua uteri, and morphologically normal ovaries and fallopian tubes situated on the pelvic sidewall. Clinically, young women present primary amenorrhea with otherwise normal secondary sexual development, normal external genitalia, normal functional ovaries, and a karyotype 46XX without visible chromosomal anomaly. They are infertile. Other features include unilateral renal agenesis, ectopia of kidneys or horseshoe kidney, skeletal anomalies (particularly Klippel-Feil appearance), hearing defects, and more rarely cardiac as well as syndactyly and polydactyly.

Synonyms

von Rokitansky Syndrome; Uterus Bipartitus Solidus Rudimentarius cum Vagina Solida. CAUV (Congenital Absence of the Uterus and Vagina) Syndrome; MA (Müllerian Aplasia); GRES (Genital Renal Ear Syndrome). It is suggested that all be called MRKH (Mayer-Rokitansky-Küster-Hauser) Type I or Type II.

History

The first description of this disorder dates back to 1820, when the German anatomist Auguste Franz Joseph Karl Mayer described this kind of anomaly, followed by a report by the Austrian pathologist Karl Freiherr von Rokitansky in 1838. The detailed description by the German gynecologist Hermann Küster was published no earlier than 1910. Another German gynecologist, G. A. Hauser, published one article each about the Küstervon Rokitansky Syndrome and the Mayer-von Rokitansky-Küster Syndrome in 1961. Thus, it seems the correct order of names is “Mayer–von Rokitansky–Küster–(Hauser) Syndrome.”

Classification

This medical condition is subdivided in two types:

  • Type I (Isolated): Also called Rokitansky Sequence.

  • Type II: Also called MURCS Association which stands for llerian duct aplasia, Renal dysplasia, and Cervical Somite anomalies.

Incidence

1:4,000 to 5,000 female newborns.

Genetic inheritance

Congenital disorder that usually occurs sporadically. The syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. This may suggest that the prevalence of the syndrome may probably be underestimated.

Pathophysiology

There is an arrest, for unknown reasons, of the Müllerian duct development at the fifth gestational week. Structures deriving from the mesoderm can be involved (uterus, cervix, and upper 75% of the vagina). Ovarian function is preserved because the ovaries originate in the primitive ectoderm. Skeleton development from mesoderm is highly sensible at this period.

Diagnosis

Clinically evocated on functional complaints of primary amenorrhea and unsatisfactory or impossible sexual intercourse. Sonography can confirm diagnosis.

Clinical aspects

Female phenotype with normal secondary sexual characteristics (breast and pubic hair growth). Pituitary and ovarian function is normal, and ovulatory progesterone levels can be detected. Features can involve the genitourinary system (congenital absence of the vagina, rudimentary uterus, bipartite uterus, hypoplasia of kidneys, ectopic malformed kidneys). Other frequent signs are short neck, low hairline, short stature, abnormal rib scapula, ...

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