Müllerian Agenesis: Diagnosis, Management, and Treatment

Müllerian agenesis occurs in 1 out of every 4,000–10,000 females. The most common presentation of müllerian agenesis is congenital absence of the vagina, uterus, or both, which also is referred to as müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis. Satisfactory vaginal creation usually can be managed nonsurgically with successive vaginal dilation; however, there are a variety of surgical options for creation of a neovagina. Regardless of the treatment option selected, patients should be thoroughly counseled and prepared psychologically before the initiation of any treatment. Evaluation for associated congenital renal anomalies or other anomalies is also important. Although exact gynecologic screening recommendations are evolving, all women with a neovagina should undergo routine gynecologic care; however, vaginal cytologic screening is not indicated. Müllerian agenesis also is referred to as müllerian aplasia, Mayer–Rokitansky–Küster–Hauser syndrome, or vaginal agenesis. Given an incidence of 1 per 4,000–10,000 females, most general gynecologists will only encounter müllerian agenesis once or twice during their careers (1). Müllerian agenesis is caused by embryologic growth failure of the müllerian duct, with resultant agenesis or underdevelopment of the vagina, uterus, or both. The vaginal canal is absent or markedly shortened. A single midline uterine remnant may be present or uterine horns (with or without an endometrial cavity) can exist. The ovaries, given their separate embryologic source, are normal in structure and function. Differential Diagnosis Patients with müllerian agenesis typically present with primary amenorrhea in adolescence with normal growth and development. After gonadal dysgenesis, müllerian agenesis is the second most common cause of primary amenorrhea (2). On physical examination, patients with müllerian agenesis have normal height, secondary sexual characteristics, body hair, and external genitalia. Furthermore, a vagina is either absent or present as a short blind-ended structure without a cervix at the vaginal apex. Patients with müllerian agenesis have a normal 46,XX karyotype and a normal hormonal profile. The differential diagnosis of müllerian agenesis includes congenital absence of the vagina (with or without uterine structures), a low transverse vaginal septum, an imperforate hymen, as well as 46,XY disorders of sex development, including androgen insensitivity and 17a-hydroxylase deficiency. In contrast to most patients with müllerian aplasia, the patient with an imperforate hymen will not have the typical fringe of hymenal tissue. The patient with a low transverse vaginal septum will have a normal hymen with more proximal obstruction of the vaginal canal. In addition to presenting with primary amenorrhea, the latter two conditions occur with symptoms of cyclic abdominal or pelvic pain and a pelvic mass due to the obstructed outflow tract and associated hematocolpos. Pelvic imaging may be helpful to distinguish this disorder. In cases of androgen insensitivity, the gonads are testes, which produce normal androgens. The lack of functional androgen tissue receptors results in sparse or no pubic and axillary hair. Patients with androgen insensitivity typically have normal breast development because of the peripheral conversion of the circulating androgens to estrogens. They may have a small lower vagina or a normal vaginal length; however, no uterus or cervix is present because of the in utero production of müllerian inhibiting substance by the testes. In pubertal females, the diagnosis COMMITTEE OPINION Number 562 • May 2013 (Replaces No. 355, December 2006)