One in 4,500 girls. This is the number of women affected by a rare congenital defect of the female internal reproductive system, called Rokitansky syndrome or MRKH, according to Orphanet. Behind these four letters are the names of the doctors who described the syndrome: Mayer, Rokitansky, Kuster and Hauser. According to the rare diseases expertise platform at Necker Hospital in Paris, this anomaly is the most common cause of vaginal absence associated with uterine malformations. The discovery of this rare pathology is often a shock for the young girls who suffer from it and their families because this disease has important repercussions on the sex life of the patient.
What is Rokitansky syndrome?
Rokitansky syndrome is characterized by aplasia of the uterus and vagina. This means that these two organs have incomplete development. This condition is said to be "congenital" because it is formed before birth, more precisely during pregnancy where certain developmental anomalies may appear. In general, young girls with this disease are in good health. They have normal morphological characteristics and a normal karyotype (46XX).
This congenital arrest in the development of the uterus and vagina can be isolated. In this case, the external genitalia, such as the vulva, are normal. The development of breasts and hair growth is also normal. As for the ovaries, they function normally. This aplasia can also be associated with other malformations, such as kidney, bone, hearing or heart abnormalities. In this case, we speak of the most severe form of the pathology, called MURCS syndrome (MUllerian, Renal, Cervicothoracic Somite).
MRKH syndrome: what are the risk factors?
According to Orphanet, Rokitansky syndrome has long been considered a disease that affects only a few people in isolation. However, several familial cases support the hypothesis of a genetic cause. According to the Rare Disease Portal, the mode of transmission of this condition appears to be "autosomal dominant with incomplete penetrance and variable expression, suggesting the involvement of mutations in a major developmental gene or limited chromosomal imbalance". But "To date, genetic studies have not revealed a gene responsible for all MRKH syndromes", can be read on the Necker Hospital website.
What are the symptoms of Rokitansky syndrome?
MRKH syndrome is manifested by:
MRKH syndrome: how to diagnose it?
Usually, Rokitansky syndrome is detected in adolescence. This is when the girl notices that she is missing her period, complaining about difficult sex, or failing to have one. "More rarely the diagnosis is made before puberty either by the fortuitous discovery of a utero vaginal anomaly during an examination made for another reason, or by the presence of certain malformations made it possible to search for this anomaly", said the Necker Hospital website.
The diagnosis of this rare congenital anomaly is based on clinical examination. The doctor checks the appearance of the vulva and the vaginal opening. Pelvic ultrasound should also be performed. This test can identify or confirm the malformation of the uterus, the presence of the ovaries and detect a kidney abnormality. Another complementary examination: an MRI. The latter, which is more precise, allows an analysis of the genital anomaly.
How to treat Rokitansky syndrome?
The management of this anomaly aims to create a vaginal cavity so that the patient can have a normal sex life. Two treatments are possible to achieve this goal. There is a non-surgical method. This technique consists of creating a vagina from the vaginal cup. To do this, the girl uses dilators, which allow the vagina, made of a very flexible tissue, to stretch until it reaches a length of between 8 and 10 cm. In this case, the girl performs dilations alone and not with a doctor.
The second option is the surgical method. In this case, surgical procedures make it possible to create a vagina. People with Rokitansky syndrome can benefit from these treatments at any age. The choice regarding the method and the "ideal time" is theirs. "As psychological distress is very important in young women with MRKH syndrome, psychological support is essential for these patients and their families before and during treatment", the Orphanet detailed.
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