Rokitansky-Kustner syndrome is a congenital and very rare anomaly, the peculiarity of which is the primary absence of 2/3 of the upper parts of the vagina and uterus. With Rokitansky-Kustner syndrome, normal development of the ovaries and external genitalia is observed, the severity of secondary sexual characteristics also persists and there are no chromosomal abnormalities. For the Rokitansky-Kustner syndrome, primary amenorrhea is inherent, quite often the anomaly can be combined with defects of other systems. Rokitansky-Kustner syndrome is diagnosed during a gynecological examination (ultrasound, laparoscopy, MRI). Surgical treatment of the Rokitansky-Kustner syndrome is reduced to the creation of an artificial vaginal tube (neovagines).
The content of the article:
What is it?
Diagnosis of the Rokitansky-Kustner syndrome
Treatment of Rokitansky-Kustner syndrome
Prognosis for Rokitansky-Kustner syndrome
Rokitansky-Kustner syndrome
What is it?
What is it?
Rokitansky-Kustner syndrome is very rare: only 1 out of 4500-5000 cases of newborn girls. There are both familial and sporadic forms of anomaly. The isolated Rokitansky-Kustner syndrome is characterized by modern gynecology as aplasia of the vagina and uterus. Nevertheless, there is a type of defect that is combined with congenital pathologies of the development of the heart, spine, kidneys and other organs.
For the first time, this anomaly began to be studied back in the distant XIX century. It was at this time that the German scientist Mayer began to investigate vaginal aplasia and its connection with other pathologies. A little later, Rokitansky and Kustner came to the conclusion that this syndrome is also characterized by the absence of a uterus, but at the same time the ovaries continue to fully perform their functions. The study of this phenomenon did not stop there, another scientist Hauser proved that this defect can be combined with other pathologies of the development of the skeleton and kidneys. That is why this disease is often called “Rokitansky, Kustner, Mayer, Hauser syndrome”.
Etiology of the Rokitansky-Kustner syndrome
The development of the Rokitansky-Kustner syndrome remains unexplored at many points. Sporadic cases of the syndrome depend on a violation of embryogenesis, more precisely on the development of the Muller ducts, which are the precursors of the female genital organs. These disorders are provoked by teratogenic factors, low productivity of the biologically active substance MIS, which is located in the cells of the embryo, defects in the formation of mesenchyma, etc.
The family type of Rokitansky-Kustner syndrome is characterized by an autosomal dominant type of transmission, with incomplete penetrance and expressiveness of the gene present.
In women, Rokitansky-Kustner-Mayer syndrome is diagnosed in 20% of cases if primary amenorrhea was previously diagnosed.
Rokitansky-Kustner Syndrome Clinic
Basically, the Rokitansky-Kyustner syndrome is first diagnosed in girls who have gone to the doctor due to the lack of menstruation. If we talk about older patients, they are primarily concerned about the inability to lead a full sexual life. In addition, there are cases when the Rokitansky-Kyustner syndrome is detected when a woman urgently goes to the doctor due to a rupture of the perineum, which caused sexual intercourse. Such cases are rather an exception, but they still happen. That is why every woman should take care of her health.
Women who have been diagnosed with the Rokitansky Custner Mayer syndrome have a normally developed secondary sexual characteristic and external genitalia. The main characteristic of the Rokitansky-Kustner syndrome is that the vagina is either completely absent or has the form of a shortened blind sac. The manifestation of underdevelopment of internal organs may be a rudimentary uterus, which has a head start of two horns with thin defective fallopian tubes (also their absence is possible) or a small string. At the same time, the ovary fully performs all the functions assigned to it.
Approximately 40% of women have the Rokitansky-Kustner-Mayer-Hauser syndrome combined with defects of the urinary system and skeletal abnormalities (kidney aplasia, doubling of the ureters, kidney dystopia, horseshoe kidney). It is obvious that the woman who was diagnosed with the Rokitansky-Kustner syndrome is infertile.
Diagnosis of Rokitansky-Kustner syndrome
Diagnosis of this disease includes a general examination, the purpose of which is to identify the correctness of the physique, compliance with sexual and physical development standards for a certain age.
Gynecological examination on the chair allows to determine in patients with Rokitansky-Kustner syndrome female-type hair loss, normal development of external genitalia. With the help of a probe, the vagina is examined in order to identify the hymen and the length of the vagina itself. In the case of Rokitansky-Kustner syndrome, the vagina is 1-1.5 cm. Using the rectal-abdominal method helps to examine the weight that is placed instead of the uterus. In addition, it is possible to palpate the absence of appendages.
The intestine is also examined, in particular, a BT schedule is created that fully corresponds to the changes in the phases of the menstrual cycle. All this confirms the fact that the ovary is working quite normally.
To confirm the presence of Rokitansky-Kustner syndrome, MRI or transabdominal ultrasound of the pelvic organs is practiced. Sometimes colpopoiesis and diagnostic laparoscopy are performed.
Treatment of Rokitansky-Kustner syndrome
Colpopoiesis from the sigmoid colon or pelvic peritoneum (plastic formation of the neovaginal) is the main treatment for Rokitansky—Kustner syndrome. Also, the vagina can be subjected to bougie and dilatation, but this is possible only if it has a length of 2-4 cm. The main purpose of such an intervention is to create the necessary conditions for a normal sexual life.
Quite often, reconstructive and reconstructive intimate plastic surgery includes laparoscopic colpopoiesis. The created artificial vagina, which is based on intestinal tissue, does not need additional hydration. This fact significantly improves the sex life of a woman who suffered from the Rokitansky-Kustner syndrome.
After surgery, the neovaginal tissues undergo some morphofunctional changes, manifested in dysplasia and atrophy of the intestinal mucosa, sclerosis. The artificial vagina may undergo sclerosis and stenosis of the enlightenment, in order to prevent this, it is necessary to periodically conduct bougie or conduct regular sexual activity.
In Rokitansky-Kustner syndrome, laparoscopic colpopoiesis has advantages over open intervention and gives the best aesthetic result. For plastic surgery of the neovagal, if it is impossible to perform colpopoiesis, a thin or transverse colon, pelvic peritoneum are used.
It should be understood that the Rokitansky-Kustner syndrome is a rare and complex defect. Its treatment can be multi-level and long-term. A lot of interesting information about this can be read on the Internet by the request “Rokitansky-Kyustner syndrome: treatment”.
Prognosis for Rokitansky-Kustner syndrome
The Rokitansky-Kustner syndrome needs a palliative treatment option, thanks to which amenorrhea persists, and the female body adapts to normal sexual life.
After the vagina has undergone plastic surgery, the restoration of female sexual function will be observed.
