Type I

                    This syndrome is subdivided in two types: type I (isolated) or Rokitansky sequence (OMIM 277000), and type II or MURCS association (MÜllerian duct aplasia, Renal dysplasia and Cervical Somite anomalies) (OMIM 601076). The MRKH syndrome is also referred to as CAUV (Congenital Absence of the Uterus and Vagina), MA (Müllerian Aplasia) or GRES (Genital Renal Ear Syndrome). It would thus be preferable that all entries (MRKH type I and type II, MURCS association, CAUV, MA and GRES) refer to the unique OMIM number 601076. Typical MRKH – Isolated uterovaginal aplasia/hypoplasia is found in 64% of cases. Atypical MRKH – Uterovaginal aplasia/hypoplasia with renal malformation or uterovaginal aplasia/hypoplasia with ovarian dysfunction is observed in 24% of women. 12 % of patients get MURCS syndrome – Uterovaginal aplasia/hypoplasia with renal malformation, skeletal malformation, and cardiac malformation.

          Two types of MRKH are distinguished: type I and type II. Type I Mayer-Rokitansky-Kuster-Hauser syndrome is often called Rokitansky sequence or isolated Mullerian aplasia. The uterus and vagina have a number of abnormalities and do not develop in a good way. The severity of type I syndrome may range from woman to woman. Traditionally the symptoms include absent fallopian tubes, vagina, cervix and upper vagina. The possible causes of such a condition may be the following: pelvic, genital, congenital and uterus conditions. These patients have an undeveloped vagina and the uterus. Also, it is possible for some to experience the narrowing of the top part of the vagina (atresia) and unformed uterus. Some may have the affected fallopian tubes. The ovaries in women with such a syndrome are not stricken and are functioning normally.

          The primary symptom of Mayer-Rokitansky-Kuster-Hauser Syndrome is the absence of menstruations (primary amenorrhea). In spite of this, women do have normal pubertal development. Also, they may have the fat increase in different areas of the body, especially hips. As for libido, sex steroid levels they are normal. Because of the affected fallopian tubes and the uterus these women are not able to carry a child. Also, many have difficulties and unpleasant feeling while having sexual intercourse, because of the short vagina. This kind of syndrome is found in 64% of patients affected with MRKH.


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