ACOG Committee Opinion No. 728 Summary: Müllerian Agenesis: Diagnosis, Management, And Treatment
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. Müllerian agenesis is cau0073ed by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. 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. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90–96%) will be able to achieve anatomic and functional success by primary vaginal dilation. 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:
© 2017 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.
- Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development.
- Rudimentary müllerian structures are found in 90% of patients with müllerian agenesis by magnetic resonance imaging. On ultrasonography, these rudimentary müllerian structures are difficult to interpret and may be particularly misleading before puberty.
- Evaluation for associated congenital anomalies is essential because up to 53% of patients with müllerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton.
- All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups.
- Future options for having children should be addressed with patients.
- Primary vaginal elongation by dilation is the appropriate first-line approach in most patients because it is safer, patient-controlled, and more cost effective than surgery.
- Because primary vaginal dilation is successful for more than 90–96% of patients, surgery should be reserved for the rare patient who is unsuccessful with primary dilator therapy or who prefers surgery after a thorough informed consent discussion with her gynecologic care provider and her respective parent(s) or guardian(s).
- Regardless of the surgical technique chosen, referrals to centers with expertise should be offered. The surgeon must be experienced with the procedure because the initial procedure is more likely to succeed than follow-up procedures.
- Although vulvar and vaginal intraepithelial neoplasia are possible, routine cytology testing is not regularly recommended because of the lack of a cervix.
- Sexually active women with müllerian agenesis should be aware that they are at risk of sexually transmitted infections and, thus, condoms should be used for intercourse. Patients should be appropriately screened for sexually transmitted infections according to the guidelines for women without müllerian agenesis.
- Patients should be given a written medical summary of their condition, including a summary of concomitant malformations. This information may be useful if the patient requires urgent medical care or emergency surgery by a health care provider unfamiliar with müllerian agenesis.