In addition to presenting with primary amenorrhea, all these conditions may occur with symptoms of cyclic or persistent abdominal or pelvic pain and a pelvic mass due to the obstructed outflow tract.One of the most common conditions that may be confused with 46,XX müllerian agenesis is androgen insensitivity syndrome. 25, No. Available at: 29. Unicornuate uterus with an obstructed noncommunicating rudimentary horn. Imaging may be helpful in preoperative evaluation. Patients should be appropriately screened for sexually transmitted infections according to the guidelines for women without müllerian agenesis (The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. Pelvic examinations should be performed if there are concerns about complications, vaginal stricture, or stenosis. A noncommunicating rudimentary horn with endometrium may manifest as a large uterine mass and endometriosis requiring surgical intervention (A duplicated (proximal) vagina may be associated with a transverse hemivaginal septum, resulting in ipsilateral obstruction and hematometrocolpos (At US, the differentiation of fusion (didelphys and bicornuate) anomalies from reabsorption (septate and arcuate) anomalies is based on the presence of a uterine fundal cleft (As with US, MR imaging demonstrates two widely divergent uterine horns and two separate cervices. Fertil Steril 2015;103:220–7.e1.25.
MRKH syndrome account for 5% to 10% of all mullerian anomalies. 2nd ed. Please enable scripts and reload this page. A common imaging and clinical challenge is the ability to distinguish a bicornuate uterus from a septate uterus. in patients in whom hormonal and karyotypic investigations for primary amenorrhea are normal. Philadelphia (PA): Wolters Kluwer; Lippincott Williams & Wilkins; 2012. p. 177–237.11. The timing of the surgery depends on the patient and the type of procedure planned. Patel V, Casey RK, Gomez-Lobo V. Timing of gonadectomy in patients with complete androgen insensitivity syndrome-current recommendations and future directions. The vagina is typically shortened and the uterus or cervix does not develop because of in utero production of müllerian-inhibiting substance by the testes.

Two-dimensional ultrasound is not a reliable method of diagnosis, as exemplified by the two cases presented in this review; however, three-dimensional ultrasound may be a more sensitive diagnostic tool. Newer 3D T2-weighted sequences provide submillimeter section thickness along with multiplanar reformatting capability. Fusion of the müllerian ducts normally occurs between the 6th and 11th weeks of gestation to form the uterus, fallopian tubes, cervix, and proximal two-thirds of the vagina ().Any disruption of müllerian duct development during embryogenesis can result in a broad and complex spectrum of congenital abnormalities termed müllerian duct anomalies (MDAs). In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.The American College of Obstetricians and Gynecologists makes the following recommendations and conclusions:Müllerian agenesis, also referred to as müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500–5,000 females (Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. Although vulvar and vaginal intraepithelial neoplasia are possible, routine cytology testing is not regularly recommended because of the lack of a cervix. MR imaging provides clear anatomic detail of both the internal uterine cavity and the external contour.

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