Guideline sources The following summarized guidelines for the evaluation and management of m llerian agenesis are prepared by our editorial team based on guidelines from the American College of Obstetricians and Gynecologists (ACOG 2018). 1 Guidelines 1. Screening and diagnosis Diagnosis: recognize that patients with M llerian agenesis usually are identified during evaluations for primary amenorrhea with otherwise typical growth and pubertal development. E 2. Diagnostic investigations Diagnostic imaging: recognize that rudimentary M llerian structures are found in 90% of patients with M llerian agenesis by MRI, but can be difficult to interpret on ultrasound and may be particularly misleading before puberty. E https://web.pathway.md/diseases/recrBtSjAWnfGRnqS 1/3 6/30/23, 1:06 AM M llerian agenesis Pathway Evaluation for other congenital anomalies: obtain evaluation for associated congenital anomalies because up to 53% of patients with M llerian agenesis have concomitant congenital malformations, especially of the urinary tract and skeleton. E Vaginal cytology: do not obtain routine cytology testing because of the lack of a cervix, although vulvar and vaginal intraepithelial neoplasia are possible. D 3. Therapeutic procedures Vaginal dilation: offer primary vaginal elongation by dilation as the first-line approach in most patients with M llerian agenesis because it is safer, patient-controlled, and more cost-effective than surgery, and is successful for > 90-96% of patients. E 4. Surgical interventions Indications for surgery: reserve surgery for cases of unsuccessful primary dilation or for patients preferring surgery after a thoroughly informed consent discussion with the gynecologic care provider and the patient's parents or guardians. E Show 2 more 5. Patient education General counseling: provide counseling to all patients with M llerian agenesis and encourage connecting with peer support groups. E Show 3 more Clinical findings Symptoms Past medical history Abdominal pain Congenital fusion of cervical vertebrae Amenorrhea Congenital hearing loss Musculoskeletal exam Renal agenesis Vater syndrome Scoliosis Gynecologic exam Imaging findings Absent vaginal canal Absent uterus Short vaginal canal References https://web.pathway.md/diseases/recrBtSjAWnfGRnqS 2/3 6/30/23, 1:06 AM M llerian agenesis Pathway 1. Committee on Adolescent Health Care. ACOG Committee Opinion No. 728 M llerian Agenesis: Diagnosis, Management, And Treatment. Obstet Gynecol. 2018 Jan;131 1):e35-e42. Open https://web.pathway.md/diseases/recrBtSjAWnfGRnqS 3/3