• Clinical science

Anomalies of the female genital tract


Structural anomalies of the female genital tract may be present at birth or may be acquired later in life. Common congenital anomalies of the female genital tract are an imperforate hymen and anomalies of Müllerian duct fusion. Impaired fusion of the Müllerian ducts can result in duplication of the uterus, cervix, and/or vagina, while incomplete fusion results in an intrauterine and/or intravaginal septum. Rarely, the Müllerian duct may be completely absent (Müllerian agenesis), resulting in the absence of the uterus, cervix, and vagina. Acquired structural anomalies include intrauterine adhesions and labial fusion. Intrauterine adhesions occur following uterine curettage or as a result of pelvic inflammatory disease. Labial fusion is the result of estrogen deficiency during childhood. Most patients with structural anomalies of the female genital tract remain asymptomatic until puberty. While Müllerian agenesis, labial fusion, and an imperforate hymen present with primary amenorrhea, intrauterine adhesions present with secondary amenorrhea. Infertility may be the initial symptom in all structural anomalies of the genital tract. The diagnoses of imperforate hymen and labial fusion are primarily clinical. Structural anomalies of the uterus and cervix are diagnosed with imaging such as a transvaginal ultrasonography. Surgical reconstruction or resection is the main treatment for both the congenital and acquired genital tract anomalies. Labial fusion is treated with topical estrogen.

Anomalies of the uterus

Anomalies of Müllerian duct fusion

Anomalies of Müllerian duct fusion
Types of fusion anomalies Relative frequency Pathophysiology

Müllerian agenesis

Rare Both the Müllerian ducts fail to develop → absent or hypoplastic uterus, absent cervix, and vaginal atresia
Unicornuate uterus 10% One of the Müllerian ducts fails to develop
Didelphic uterus (Class III) 8% Complete lack of Müllerian duct fusion → double uterus, double cervix, double vagina
Bicornuate uterus 26%

Incomplete fusion of the Müllerian ducts to various degrees

Septate uterus 35% The Müllerian ducts fuse, but the septa between the two ducts persists either partially (subseptate uterus) or completely (septate uterus).

DES-related abnormality


In-utero exposure to diethylstilbestrol

The mere presence of a Müllerian duct anomaly is not an indication for surgical therapy. In a patient with infertility and congenital uterine anomalies, it is important to rule out other causes of infertility before surgical therapy is considered!

Intrauterine adhesions (Asherman syndrome)

  • Etiology
    • Following uterine curettage (most common cause)
    • Postinflammatory; (e.g., chlamydia)
  • Clinical features
  • Diagnostics
    • Progesterone withdrawal test: bleeding does not occur following progestin withdrawal given block of outflow track
    • Confirmatory test: hysteroscopy to directly visualize adhesions
  • Treatment
    • Hysteroscopic resection of the adhesions
    • Treatment is only indicated if patients are symptomatic.


Anomalies of the vulva and vagina

Imperforate hymen

Vaginal atresia

Transverse vaginal septum

Labial fusion

  • Definition: partial or complete adhesion of the labia minora
  • Epidemiology: occurs in 2–5% of females up to 4 years of age
  • Etiology:
  • Clinical features
    • Usually asymptomatic
    • If external urethral opening is obstructed: recurrent attacks of UTI, vaginitis, vestibulitis
    • Perineal examination
      • A thin vertical midline fold in the perineum
      • The labia, vaginal opening, and occasionally the urethral meatus are not visible.
  • Diagnostics: : primarily clinical diagnosis
  • Treatment: