The Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and 2/3 of the upper vagina in women with normal development of secondary sexual characteristics and a normal karyotype. The two structures have their origins from Mullerian tissue (ovaries arise separately from the gonadal ridge).

The syndrome can be thought of as two types:

• type I: agenesis of the uterus and the upper portion of the vagina
• type II: an association of renal defects, vertebral and, to a lesser extent, to auditory and cardiac alterations (MURCS)

The first clinical sign of the syndrome is a primary amenorrhea in young women with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, in addition to karyotype 46, XX.

This case was kindly provided by Dra. Luciane Schuller.