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Mayer Rokitansky Kuster Hauser Syndrome
Mayer Rokitansky Kuster Hauser Syndrome is a malformation of the genital system, which affects one in 4500/5000 girls and is present from birth . The causes are not yet known, but we know that it manifests itself approximately in the 5th week of gestation, when the reproductive system begins to form in the fetus.
Girls born with Mayer-Rokitansky-Kuster-Hauser Syndrome have malformations and/or absence of the uterus and vagina, and in some cases are associated with anomalies of other organs, such as the heart, kidneys, spine, hearing.
For this reason, two main types of Mayer-Rokitansky-Kuster-Hauser Syndrome, abbreviated to MRKH, have been classified.
MRKH type I is characterized by malformation and/or absence of the uterus and/or vagina (partial formation of the two organs or complete absence).
MRKH type II or MURCS , in addition to the characteristics of type I, this typology presents alterations related to the skeletal, urinary, cardiac and auditory systems.
In both cases, the secondary sexual characteristics are normally developed, as are the external genitalia and the ovaries are functional (although sometimes they can be dislocated in anomalous places); for this reason the Syndrome is generally discovered during adolescence, due to the absence of menstruation.
The diagnosis is usually reached after excluding other chromosomal syndromes (the karyotype for those affected by Rokitansky is perfectly normal 46XX), and confirming the absence and/or malformation of the vagina and/or uterus with magnetic resonance imaging.
Trattamento dell’ipoplasia vaginale
Therapeutic Path
The altered development of the Mullerian ducts leads, as already written in the introductory section to the pathology, to the absence of the development of a uterus or the development of a bud of an organ which is in any case not effective in allowing a pregnancy in girls affected by Mayer-Rokitansky-Kuster-Hauser (MRHK) Syndrome.
Variation in vaginal developmental abnormality among women usually requires therapeutic treatments to correct the anatomy and promote satisfying sexuality. Both nonsurgical approaches using expanders and surgical interventions have been suggested, both with positive results in both modalities.
To address this condition, both non-surgical treatments and surgical interventions are proposed:
Non-surgical treatments with vaginal expanders
This approach involves the use of vaginal expanders, which are devices designed to gradually dilate the vagina over time. This process can take several months or even years and requires close medical supervision. Vaginal expanders help create space and stretch the vagina to allow for more comfortable and satisfying sexual intercourse.
Surgical interventions
Surgical procedures may be necessary to correct vaginal anatomy and provide a functional vagina. Surgical techniques vary depending on the individual needs of the patient and can be varied. Surgical procedures may be combined with the use of tissue grafts.
Both non-surgical and surgical approaches have been shown to provide satisfactory results for patients with Rokitansky-Küster-Schweizer Syndrome, allowing them to lead a full and satisfying sexual life. However, the choice of treatment depends on the individual preferences of the patient, the nature of the condition, and the opinions of the medical team.
The support that makes the difference
Psychological Path
The diagnosis of the Syndrome and living with it can have a significant psychological and emotional impact on patients and their families, such as to influence daily life and affect mental patterns in the short and long term.
Sexual identity is questioned and social and sentimental life is qualitatively reduced.
The diagnosis almost always occurs during adolescence due to the absence of menarche. The latter, combined with the period in which the diagnosis occurs and infertility are the factors that most influence the psychosexual health of the person, the self-image that is reformulated can be negative, aimed at defect and imperfection.
Menarche plays a central role in the formation and development of female identity as it represents the achievement of sexual maturity; therefore, the absence of the first menstruation can make girls feel incomplete and different from their peers.
To date we are not aware of a psychological support service dedicated to patients that is provided by the NHS with a specific exemption, we are constantly updating and searching for information to clarify and provide the most comprehensive information possible. If you know of data that can be useful to the community, write to us.
Our Hub aims to offer psychological and medical support in the first phase, with the voluntary collaboration of Specialists, we work to arrange moments of meeting and discussion, with both individual and group activities, for all ages.
Protocollo Sperimentale
Uterus Transplant
The Higher Health Council authorized the national experimental uterus transplant program in 2018, with implementation at the Transplant Center of the Catania Polyclinic from 2019.
The experimental protocol aims to ensure the success of a pregnancy for patients who have undergone a uterus transplant. The first step consists in ensuring the correct functioning of the transplanted organ; subsequently, approximately one year after the operation, once the patient's health is stable, the process of medically assisted procreation begins. According to the criteria established by the protocol, potential candidates for the transplant are women between the ages of 18 and 40, with no history of oncological pathologies, without previous full-term pregnancies with a positive outcome, and affected by congenital uterine pathology (such as Rokitansky syndrome) or acquired (such as postpartum uterine atony).
The Italian trial requires donors to be deceased women between the ages of 18 and 50 and currently excludes donations from living donors.
The recipient faces three fundamental surgical interventions: the uterus transplant, the cesarean section and the removal of the transplanted organ.
A crucial aspect is immunosuppressive therapy, which deserves particular attention.
It is important to note that this therapy is not long-term, but is administered until the uterus is removed. Therefore, theoretically, the risks for the patient are lower than with a long-term transplant.
