Müllerian agenesis

Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a congenital condition characterized by the underdevelopment or absence of the uterus and the upper part of the vagina in females, while the external genitalia and the development of secondary sexual characteristics (such as breasts) remain normal. This condition is named after the physicians who first described it: August Franz Joseph Karl Mayer, Carl Freiherr von Rokitansky, Hermann Küster, and G.A. Hauser.

Etiology and Pathogenesis

The exact cause of Müllerian agenesis is unknown, but it is believed to involve a combination of genetic, environmental, and possibly hormonal factors. The condition results from the failure of the Müllerian ducts to develop properly during fetal development. These ducts are precursors to the female reproductive tract, including the fallopian tubes, uterus, cervix, and the upper part of the vagina.

Clinical Presentation

Individuals with Müllerian agenesis typically present with primary amenorrhea, which is the absence of menstruation by the age of 16, despite normal development of secondary sexual characteristics. They may also experience cyclic pelvic pain due to the accumulation of menstrual blood in the vaginal or uterine remnants. Since the ovaries are usually normal, individuals with this condition may experience normal puberty and have a normal female karyotype (46,XX).

Diagnosis

Diagnosis of Müllerian agenesis is often made based on the clinical presentation, including the history of primary amenorrhea and normal secondary sexual characteristic development. Pelvic ultrasound or magnetic resonance imaging (MRI) can confirm the absence or underdevelopment of the uterus and vagina. Karyotyping may be performed to exclude chromosomal abnormalities.

Management

The management of Müllerian agenesis focuses on the psychological and reproductive aspects of the condition. Psychological counseling is important to address any emotional or psychological issues. For those desiring to have a functional vagina, vaginal reconstruction can be performed using various surgical techniques or through non-surgical methods such as the use of vaginal dilators. Assisted reproductive technologies, such as in vitro fertilization (IVF) with a gestational carrier, may be options for individuals wishing to have biological children.

Prognosis

The long-term prognosis for individuals with Müllerian agenesis is generally good, especially with appropriate management of the condition. Psychological support and counseling play a crucial role in helping individuals cope with the diagnosis and its implications.

Epidemiology

Müllerian agenesis is a rare condition, affecting approximately 1 in 4,500 female births. However, the exact prevalence may vary due to underreporting and differences in diagnostic criteria.

See Also

• Congenital anomalies of the genitalia
• Primary amenorrhea
• Vaginal agenesis