Müllerian agenesis

Müllerian agenesis is a rare birth defect. It is also called Mayer-Rokitansky-Kuster-Hauser syndrome or MRKH. People with the syndrome are born without vaginas, cervixes, and wombs. It occurs in about 1 in 4,500 to 5,000 female births. Women with MRKH syndrome have normal external genitalia and normal secondary sexual characteristics, but they are unable to be pregnant because they do not have an uterus. The cause is unknown. It probably is a genetic disorder that occurs during fetal development. There is no cure for MRKH syndrome, but treatment options, such as hormone therapy and surgery, can help women manage the condition.

Causes of Mullerian agenesis

The cause of MRKH syndrome is believed to be a combination of genetic and environmental factors.

There is no known way to prevent it. It is not inherited in a predictable pattern, so it is not caused by any specific genetic mutation. Some studies suggest that it may be caused by a disruption in the development of the Müllerian ducts (the tubes in the embryo that give rise to the uterus and upper vagina). Other possible contributing factors may include exposure to certain medications or chemicals during pregnancy or hormonal imbalances.

MRKH syndrome is a rare condition, affecting only about 1 in every 4,500 to 5,000 female infants.

Features of Mullerian agenesis

1. Absence of uterus and cervix: This is known as Mullerian agenesis or Mullerian hypoplasia.
2. Normal external genitalia: Despite the absence of the uterus and cervix, individuals with MRKH syndrome have normal external genitalia, including a vagina, vulva, and labia.
3. Amenorrhea: Individuals with MRKH syndrome do not have menstrual periods due to the absence of the uterus. This is called amenorrhea.
4. Infertility: As a result of the absence of the uterus, individuals with MRKH syndrome are unable to carry a pregnancy.
5. Normal development of secondary sexual characteristics: Despite the absence of reproductive organs, individuals with MRKH syndrome typically develop normal secondary sexual characteristics, such as breasts and pubic hair.
6. Associated skeletal abnormalities: Some individuals with MRKH syndrome may have skeletal abnormalities, such as spinal curvature or abnormal growth of the pelvis.
7. Psychological and emotional impact: The diagnosis of MRKH syndrome can have a significant psychological and emotional impact on individuals, as it can be a significant source of stress and anxiety.

Diagnosis of Mullerian Agenesis

It is typically diagnosed in girls and women who are born with a uterus, but have underdeveloped or absent vaginal openings.

The diagnosis of MRKH syndrome is usually made during puberty when they have not begun to menstruate and have no vaginal opening. Other signs and symptoms of MRKH syndrome may include:

• Absence of menstrual periods
• Short stature or abnormal development of the external genitalia
• Absence of breast development
• Normal ovaries and external genitalia

The diagnosis of MRKH syndrome is typically made through a combination of physical examination, imaging studies (such as ultrasound or MRI), and blood tests to check hormone levels. In some cases, a biopsy of the uterus may also be performed to confirm the diagnosis.

Treatment

There are several treatment options for MRKH syndrome, which can be customized based on the individual's specific needs and preferences. These options include:

1. Hormone replacement therapy: This involves taking hormones, such as estrogen and progesterone, to help develop secondary sexual characteristics and maintain bone density.
2. Vaginal dilation therapy: This involves using dilators to stretch the vagina and improve its function.
3. Vaginal reconstructive surgery: This involves surgically creating a functioning vagina using techniques such as the McIndoe procedure or the Vecchietti procedure.
4. Assisted reproductive techniques: For individuals who wish to become pregnant, assisted reproductive techniques, such as in vitro fertilization, may be used.
5. Psychological support: Many individuals with MRKH syndrome may benefit from psychological support to help them cope with the physical and emotional challenges of the condition.

It is important for individuals with MRKH syndrome to work with a healthcare team that includes specialists in reproductive medicine, gynecology, and mental health to determine the best treatment plan.