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MRI with T2 sequences in the axial and sagittal planes confirms the absence of the vagina, uterus and fallopian tubes. There are functional ovaries with cysts of 20 mm to left.
Mayer-Rokitansky-Kuster-Hauser syndrome, sometimes simply called Rokitansky Syndrome or vaginal aplasia of the uterus, is a congenital condition (present at birth ) that is characterized by the absence of the uterus and vagina, and ovaries are present and also the external genitalia are normal.
It is estimated that its incidence is approximately 1 in 4000 female births.
This syndrome is named after its most famous discoverer Baron Karl von Rokitansky (Czechoslovakia, 1804-1878), a physician and professor at the University of Vienna. In 1829 and in 1838 Mayer Rokitansky described a syndrome that includes agenesis of the uterus and vagina, while Kuster will then observe a correlation with urological defects. For this reason, this condition is also known as Mayer-Rokitansky-Kuster-Hauser.
Causes of Rokitansky syndrome
The etiology of the syndrome is unknown. Were studied numerous genes in order to identify a genetic cause without any result. Normally during human embryogenesis, together with the various equipment and systems, takes the development of the reproductive system; in patients suffering from this disease development starts but can not be completed.
From the clinical point of view the Rokitansky syndrome is manifested by the absence of the uterus and vagina, ovaries and external genitalia in the standard and normal female karyotype. In some cases it may be associated with abnormalities of other organs such as the kidneys and urinary tract, heart and skeleton. The majority of patients with Rokitansky syndrome realizes it during puberty, since, despite the changes normal, you have amenorrhea (ie menstruation is absent): it should be noted that this syndrome is currently the second leading cause of primary amenorrhea after Turner's syndrome. The ovaries present in fact induce the female characterization, but menstruation does not occur. The most important consequence - and more dramatic for women - of this disease is the inability to get pregnant in the absence of the uterus. In addition, as long as they are not treated surgically, the woman will be impossible for the normal vaginal penetration during intercourse, due to the absence of the vagina.
The diagnosis of Rokitansky syndrome is essentially clinical. However, the normal medical examination should be supplemented with genetic tests for control of the karyotype, pelvic ultrasound and magnetic resonance imaging for the control of internal anatomy. Also important is a renal ultrasound, because, as I said at the outset, this pathology is often associated, and anomalies of the kidney and other organs is statistically the most affected.
Regarding the treatment it is possible to reconstitute by surgical intervention, in order to have a normal sexual life, even if the phases before and after surgery are very hard to deal with. This of course does not solve the problem of the absence of the uterus (which remain infertility and amenorrhea), although in the future it is expected that it will be possible to use the transplant.