Congenital absence of the uterus and vagina

Congenital Absence of the Uterus and Vagina (CAUV), also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome), is a rare disorder that affects the reproductive system of females, leading to the underdevelopment or absence of the uterus and vagina. It is a type of Müllerian agenesis and is present from birth. This condition does not affect the external genitalia, which typically appear normal, and thus, it may not be diagnosed until adolescence when the affected individual fails to menstruate.

Causes and Diagnosis

The exact cause of CAUV is unknown, but it is believed to involve genetic and environmental factors. It is not typically inherited in a simple Mendelian pattern, suggesting a complex interplay of genetics. Diagnosis is usually made in teenage years when absence of menstruation (amenorrhea) is investigated. Initial diagnosis can be supported by physical examination, ultrasound, and sometimes Magnetic Resonance Imaging (MRI) to confirm the absence of the uterus and vagina and to check for the presence of normal ovaries.

Symptoms and Complications

The primary symptom of CAUV is primary amenorrhea, which is the absence of menstruation by age 16. Individuals with this condition may also experience abdominal pain due to the accumulation of menstrual blood in the abdomen if a rudimentary uterus is present. Since the ovaries are typically normal, individuals with CAUV will also experience normal puberty development, including the development of secondary sexual characteristics such as breast growth.

Treatment

Treatment for CAUV is focused on the creation of a functional vagina to allow for sexual intercourse, if desired by the patient. This can be achieved through nonsurgical methods like the use of vaginal dilators or through surgical procedures. Psychological support and counseling are also important aspects of treatment due to the emotional and psychological impact of the diagnosis.

Prognosis

With appropriate treatment, individuals with CAUV can lead a normal life. However, since they lack a uterus, they are unable to conceive or carry a pregnancy. Assisted reproductive technologies, such as surrogacy or adoption, are options for those desiring children.

See Also

• Müllerian agenesis
• Amenorrhea
• Mayer-Rokitansky-Küster-Hauser syndrome