Mullerian aplasia

Mullerian Aplasia M llerian aplasia, also known as Mayer-Rokitansky-K ster-Hauser (MRKH) syndrome, is a rare congenital disorder characterized by the underdevelopment or absence of the M llerian duct system, which includes the uterus, cervix, and the upper two-thirds of the vagina. This condition affects approximately 1 in 4,500 to 5,000 female births.

Etiology

The exact cause of M llerian aplasia is not well understood, but it is believed to result from a disruption in the development of the M llerian ducts during embryogenesis. Genetic factors are thought to play a role, although no specific gene has been definitively linked to the condition. Some cases may be associated with mutations in genes involved in the development of the reproductive tract.

Clinical Presentation

Individuals with M llerian aplasia typically present with primary amenorrhea, which is the absence of menstruation by the age of 16. Despite the absence of a functional uterus and upper vagina, affected individuals usually have normal external genitalia and secondary sexual characteristics, such as breast development and pubic hair, due to normal ovarian function.

Diagnosis

Diagnosis of M llerian aplasia is often made during adolescence when a young woman presents with primary amenorrhea. A pelvic examination, ultrasound, or MRI can reveal the absence or underdevelopment of the uterus and upper vagina. Hormonal evaluations are usually normal, as ovarian function is typically unaffected.

Associated Anomalies

M llerian aplasia can be associated with other congenital anomalies, particularly renal and skeletal abnormalities. Renal anomalies may include unilateral renal agenesis or ectopic kidneys. Skeletal anomalies can involve the spine, such as scoliosis or vertebral fusion.

Management

Management of M llerian aplasia focuses on addressing the anatomical and psychological aspects of the condition. Vaginal reconstruction may be considered to create a functional vaginal canal, which can be achieved through non-surgical methods such as dilation or surgical procedures. Psychological support and counseling are important to address the emotional and social impacts of the condition.

Fertility Considerations

Individuals with M llerian aplasia are unable to carry a pregnancy due to the absence of a functional uterus. However, they may have biological children through assisted reproductive technologies, such as in vitro fertilization (IVF) with a gestational surrogate.

Prognosis

The prognosis for individuals with M llerian aplasia is generally good, as they can lead normal lives with appropriate medical and psychological support. Fertility options and reconstructive surgery can help address some of the challenges associated with the condition.

See Also

• Congenital anomalies
• Primary amenorrhea
• Assisted reproductive technology

External Links

• [National Organization for Rare Disorders (NORD) - MRKH Syndrome](https://rarediseases.org/rare-diseases/mayer-rokitansky-kuster-hauser-syndrome/)
• [Genetics Home Reference - MRKH Syndrome](https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome)

NIH genetic and rare disease info

• NIH info on Mullerian aplasia

Mullerian aplasia is a rare disease.