• 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 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 [1]
Types of fusion anomalies Relative frequency Pathophysiology

Müllerian agenesis

  • Rare
Unicornuate uterus
  • 10%
Didelphic uterus
  • 8%
Bicornuate uterus
  • 26%
Septate uterus
  • 35%

DES-related abnormality

  • Rare

In patients with infertility and congenital uterine anomalies, it is important to rule out other causes of infertility before surgical therapy is considered.

The mere presence of a Müllerian duct anomaly does not necessitate surgical therapy.

Intrauterine adhesions (Asherman syndrome)

Individuals with Asherman syndrome have intrauterine Adhesions.


Anomalies of the vulva and vagina

Imperforate hymen

Vaginal atresia

Transverse vaginal septum

  • Incidence: 1/70,000 female individuals
  • Pathophysiology
    • Failure of recanalization of the Müllerian duct → transverse septum in the upper-third (45%), lower third (15–20%), and/or middle third (35–40%) of the vagina
    • Associated with cervical hypoplasia or absence
    • Cryptomenorrhea hematocolpos
  • Clinical features
  • Diagnostics: transvaginal ultrasonography or MRI
  • Treatment
    • First-line: nonsurgical dilation over 6–12 months using graduated vaginal dilators
    • Second-line: vaginoplasty

Labial fusion

  • Definition: partial or complete adhesion of the labia minora
  • Epidemiology: occurs in 2–5% of female individuals 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: