About the syndrome

The Rokitansky Syndrome, also known as Mayer-Rokitansky-Küster-Hauser Syndrome or MRKH Syndrome, is named after the medical researchers August Franz Josef Karl Mayer (1787-1865), Carl Freiherr von Rokitansky (1804-1878), Hermann Küster (1879-1964), and Georges Andre Hauser (1921-2009). Perhaps one day we can simply call it Roki Syndrome.

It is a congenital syndrome of unknown cause that affects the female reproductive system during its formation, in the first few months of fetal life. The genital organs begin to grow, but do not fully develop, mainly affecting the formation of the uterus and vaginal canal. In most cases, the uterus is absent or very small, and the vaginal canal (the pathway between the uterus and the vulva) is shorter and narrower than usual, and may also be absent. The external genitalia, the vulva (clitoris, urethral opening, labia minora and majora, hymen), and anus develop normally, as do the ovaries and fallopian tubes (the duct that carries the egg from the ovary to the uterus).

The syndrome is classified into two types:

  • Type I, with isolated involvement of the reproductive organs, with an incidence of one in every 5,000 women;
  • Type II, with associations of systemic alterations in other organs, with an incidence of one in every 10,000 to 15,000 women, with even rarer cases.

Women with Rokitansky Syndrome have normal hormonal development. During puberty, they develop breasts, pubic and axillary hair, and other sexual characteristics. The absence of menstrual periods, pain or difficulty during sexual intercourse are reasons for seeking medical attention, usually between the ages of 13 and 18.

In the gynecological physical exam, the doctor will identify a normal external genitalia and an altered vaginal canal, which is an important characteristic of Rokitansky Syndrome. Imaging exams should be requested to confirm the diagnosis, with pelvic ultrasound being the main exam to register the absence or underdevelopment of the uterus, the normality of the ovaries, and renal characteristics. Magnetic resonance imaging also allows for the visualization of internal female reproductive structures in greater detail. When requested, a blood test will analyze the normal sexual hormone profile and female karyotype (46,XX).

Treatment recommendations, clinical follow-up, and emotional support are important at all stages to help women achieve a healthy life with as little physical discomfort and emotional distress as possible.

The Roki Institute was created to contribute, assist, and support everyone involved in this journey.