Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that causes the vagina and uterus to be underdeveloped or absent. Because of this, affected women do not have menstrual periods. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 15 (primary amenorrhea).

Girls and women with MRKH syndrome have a 46,XX chromosome pattern. They have normal external genitalia and functioning ovaries. They also have normal breast and pubic hair development. Women with this condition cannot carry a pregnancy; some may be unable to have biological children (infertile), while others may be able to have children with medical support.

MRKH syndrome is often divided into two types. MRKH syndrome type 1 affects only the reproductive organs. MRKH syndrome type 2 also affects other parts of the body. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Additionally, hearing loss, heart defects, or skeletal abnormalities, particularly of the spinal bones (vertebrae), can occur in those with MRKH syndrome type 2.

Other names

Congenital absence of the uterus and vagina (CAUV); Genital renal ear syndrome (GRES); MRKH syndrome; Mullerian agenesis; Mullerian aplasia; Mullerian dysgenesis; Rokitansky Kuster Hauser syndrome; Rokitansky syndrome

Inheritance pattern

Pattern unknown; Autosomal dominant

Source: MedlinePlus Genetics, U.S. National Library of Medicine.