Absence of uterus: what is Rokitansky syndrome?

THE Rokitansky syndrome is a female condition characterized by the absence of a uterus and part of the vagina (at least the upper 2/3). It is very rare: the prevalence usually reported in the literature is from 1/4000 to 1/10,000, according to the figures of the High Authority of Health (HAS) of November 2021.

Definition: what is Rokitansky syndrome?

Rokitansky syndrome, also called Mayer Rokitansky Küster Hauser, Mullerian aplasia, utero-vaginal aplasia, MRKH syndrome Or utero-vaginal aplasiaEast a rare anomaly which affects approximately one in 4,500 newborn females. It is characterized by a absence of uterus and part of vagina. Uterine aplasia can be more or less complete and/or asymmetrical:

• more marked: the uterine horns are absent and there are only tubal pavilions;
• incomplete : the uterine horns are larger and hollowed out with a cavity lined with a normal, functional endometrium;
• asymmetric : in these asymmetrical forms, the urinary malformations are more frequent and generally sit on the side where the aplasia is the most marked.

Most often, the aplasia is complete with a cup of 0 to 2 cm. More rarely the aplasia is incomplete, the vagina measuring 4 to 5 cm

What are the symptoms of Rokitansky syndrome?

Rokitansky’s syndrome usually passes unnoticed until adolescence. It is defined by an absence of uterus and by a partial or total absence of the vagina despite the presence of normal ovaries, fallopian tubes and external genitalia. The development of breasts and puberty hair is also normal. In addition to these symptoms, there is primary amenorrhea (total absence of menstruation), sterility, and sometimes other disorders: hearing, kidney, heart or bone (scoliosis being the most frequent).

What are the causes of Rokitansky syndrome?

The origins of Rokitansky syndrome are still unknown, but the most recent research results suggest genetic causes. There malformation would occur at approximately six weeks of pregnancy, when the female genitalia develops in the embryo.

“The complete absence of periods in a healthy adolescent girl is the first suggestive sign of Rokintansky syndrome” explains Doctor Deruelle. This is also the main reason that leads young girls to consult. The doctor performs a gynecological examination (abdominal and perineal). “Additional imaging tests are then requested to confirm the diagnosis: ultrasound, MRI” continues the practitioner.

What treatment to treat Rokitansky syndrome?

The management of Rokitansky syndrome goes first and foremost through a psychological support, recommended to the patient and her relatives. In first intention, the doctor generally proposes a dilation of the vagina manual called “Frank’s method“, requiring a strong involvement of the patient. The doctor details this method and its disadvantages “With the help of dilators, little by little, we will try to enlarge the vagina. Patients must introduce bigger and bigger dilators that they put on at night to dilate the vagina. However, depending on the shape of the disease, when there is no vagina at all, the procedure is very complicated and may only allow the patient to gain a few centimeters.” The construction of a vagina by reconstructive surgery or mucosal grafting is also possible, but the patient can also choose not to have recourse to any treatment.

What impact on pregnancy? Sexuality?

In case of Rokitansky syndrome, the penetrative sex is particularly painful or even impossible due to the small vagina size or lack thereof. “It is not not possible to achieve pregnancy through IVF. The only option is the uterus transplanta procedure that has already allowed several women around the world to get pregnant, especially in Sweden or Brazil. explains Doctor Deruelle.

Thank you to Doctor Philippe Deruelle, gynecologist-obstetrician.

– Source: National Diagnostic and Care Protocol (PNDS) UTERO-VAGINAL APLASIA Mayer-Rokitansky-Kuster-Hauser Syndrome, Reference Center for Rare Gynecological Pathologies, HAS