Müllerian Agenesis (Mayer-Rokitansky-Küster-Hauser syndrome)

Müllerian Agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) is a condition affecting the female reproductive system, where the uterus and upper part of the vagina do not develop properly. This happens because the structures called Müllerian ducts fail to form during fetal development. People with this condition usually have normal external genitalia and normal ovaries, so they develop typical secondary sexual characteristics like breast development. However, they often experience primary amenorrhea, meaning they do not start menstruating during puberty. The condition mainly impacts fertility and sexual function due to the absence or underdevelopment of the uterus and vagina.

Müllerian Agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) is a congenital malformation characterized by the agenesis or hypoplasia of the uterus and upper two-thirds of the vagina due to failure of the Müllerian ducts to develop properly. It is a major cause of primary amenorrhea in phenotypic females with a normal 46,XX karyotype and normal ovarian function. The ovaries are typically unaffected because they derive from a different embryologic origin. The syndrome may be isolated or associated with renal, skeletal, or auditory anomalies. Diagnosis is clinically significant because it explains the absence of menstruation despite normal secondary sexual characteristics and has implications for fertility and sexual health.