Which are the symptoms of Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)?

Symptoms of Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH), also known as Müllerian agenesis, is a rare congenital disorder that affects the reproductive system in females. It is characterized by the absence or underdevelopment of the uterus and the upper part of the vagina, while the external genitalia appear normal. MRKH syndrome is typically diagnosed during adolescence when girls do not start menstruating.

Primary Amenorrhea: The most prominent symptom of MRKH syndrome is primary amenorrhea, which refers to the absence of menstruation by the age of 16. Girls with MRKH syndrome do not experience the onset of menstruation, as their uterus is either absent or underdeveloped. This absence of menstruation is often the first indication that something may be wrong.

Normal Secondary Sexual Characteristics: Despite the absence of menstruation, individuals with MRKH syndrome typically develop normal secondary sexual characteristics. This includes the growth of breasts, pubic hair, and normal external genitalia. The ovaries are usually present and functional, allowing for the production of hormones necessary for sexual development.

Underdeveloped or Absent Uterus: One of the key features of MRKH syndrome is the absence or underdevelopment of the uterus. This means that affected individuals do not have a functional womb and are unable to carry a pregnancy. The severity of uterine underdevelopment can vary, ranging from a small rudimentary uterus to a complete absence of the organ.

Underdeveloped Upper Vagina: In addition to the absence or underdevelopment of the uterus, the upper part of the vagina is also affected in MRKH syndrome. The lower part of the vagina, known as the introitus, is typically present and functional. However, the upper portion may be shortened or completely absent, leading to difficulties with sexual intercourse and potential reproductive challenges.

Normal Ovarian Function: While the reproductive organs are affected in MRKH syndrome, the ovaries are usually present and functional. This means that affected individuals have normal ovarian function and continue to produce hormones necessary for sexual development. They also have the potential to undergo assisted reproductive techniques, such as in vitro fertilization (IVF), using a gestational carrier.

Associated Renal and Skeletal Anomalies: In some cases, individuals with MRKH syndrome may also have associated renal (kidney) and skeletal anomalies. These can include abnormalities in the kidneys, such as horseshoe kidney or renal agenesis, as well as skeletal abnormalities like scoliosis or fused vertebrae. These additional features can vary in severity and are not present in all cases of MRKH syndrome.

Psychological Impact: The diagnosis of MRKH syndrome can have a significant psychological impact on affected individuals. The inability to menstruate, conceive, or have a traditional pregnancy can lead to feelings of grief, loss, and a sense of being "different" from peers. Psychological support and counseling are often recommended to help individuals cope with the emotional challenges associated with MRKH syndrome.

In conclusion, Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is characterized by primary amenorrhea, underdeveloped or absent uterus, underdeveloped upper vagina, normal secondary sexual characteristics, normal ovarian function, and potential associated renal and skeletal anomalies. The diagnosis of MRKH syndrome can have a significant psychological impact, and support is crucial for affected individuals.