Rokitansky's disease

Rokitansky's Disease, also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is a rare congenital disorder that affects the female reproductive system. It is characterized by the underdevelopment or absence of the uterus and the upper part of the vagina, while the external genitalia and the development of secondary sexual characteristics (such as breast development) remain normal. This condition is named after the physicians Carl von Rokitansky, August Franz Joseph Karl Mayer, Hermann Küster, and G.A. Hauser, who contributed to its identification and understanding.

Etiology and Pathogenesis

The exact cause of MRKH syndrome is not fully understood, but it is believed to involve genetic and environmental factors. It is thought to occur during the embryonic development of the female reproductive system, specifically affecting the Müllerian ducts, which fail to develop properly. This results in the absence or underdevelopment of the uterus and upper vagina, which are derived from these ducts.

Classification

MRKH syndrome can be classified into two types:

• Type I, or isolated MRKH syndrome, involves only the reproductive system.
• Type II, or MRKH syndrome with associated malformations, may include renal (kidney), vertebral (spinal), and, less commonly, auditory (hearing) and cardiac (heart) anomalies.

Symptoms and Diagnosis

The primary symptom of MRKH syndrome is primary amenorrhea, which is the absence of menstruation by the age of 16, despite normal development of secondary sexual characteristics. Individuals may also experience abdominal pain due to the accumulation of menstrual blood in the vagina or abdomen if a rudimentary uterus is present.

Diagnosis is typically made through a combination of physical examination, imaging studies such as ultrasound or MRI, and sometimes laparoscopy. These tests help to confirm the absence or underdevelopment of the uterus and vagina and to identify any associated anomalies.

Treatment and Management

Treatment for MRKH syndrome focuses on the psychological and reproductive aspects of the condition. Psychological support and counseling are crucial due to the significant impact on an individual's mental health and self-image. For those seeking to have children, options include adoption and surrogacy, as pregnancy is not possible due to the absence of a functional uterus. Vaginal reconstructive surgery or the use of dilators can be options for creating a functional vagina for sexual intercourse.

Prognosis

With appropriate medical and psychological support, individuals with MRKH syndrome can lead normal, healthy lives. The condition does not affect lifespan or the development of secondary sexual characteristics.

Epidemiology

MRKH syndrome is considered rare, affecting approximately 1 in 4,500 female newborns. However, the incidence may be underreported due to the nature of the condition and the lack of symptoms in some cases.