Anomalies of the female genital tract

Last updated: November 25, 2022

Summarytoggle arrow icon

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 uterustoggle arrow icon

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 vaginatoggle arrow icon

Imperforate hymen

Agenesis of the upper vagina

Agenesis of the lower vagina

Transverse vaginal septum

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:

Referencestoggle arrow icon

  1. American Fertility Society. The American Fertility Society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, Müllerian anomalies and intrauterine adhesions. Fertil Steril. 1988; 49 (6): p.944-955.doi: 10.1016/s0015-0282(16)59942-7 . | Open in Read by QxMD
  2. Committee on Adolescent Health Care.. ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment.. Obstetrics and gynecology. 2018; 131 (1): p.e35-e42.doi: 10.1097/AOG.0000000000002458 . | Open in Read by QxMD
  3. AAGL Elevating Gynecologic Surgery.. AAGL practice report: practice guidelines on intrauterine adhesions developed in collaboration with the European Society of Gynaecological Endoscopy (ESGE). Gynecological surgery. 2017; 14 (1): p.6.doi: 10.1186/s10397-017-1007-3 . | Open in Read by QxMD
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