Anomalies of the female genital tract

Last updated: July 8, 2022

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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 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.

References:[2][3][4]

Imperforate hymen

  • Definition: a hymen without an opening
  • Epidemiology: 1:1000—2000 female individuals [5]
  • Etiology: congenital defect
  • Pathophysiology: central cells of the Müllerian eminence in the urogenital sinus do not disintegrate → imperforate hymen cryptomenorrhea at puberty (outflow tract obstruction leads to backup of menstrual blood) hematocolpos; (accumulation of blood in the vagina) and/or hematometra (accumulation of blood in the uterus)
  • Clinical features
    • Asymptomatic before puberty: At birth, vaginal secretions accumulate → may be detected as a swelling in the introitus → spontaneous resolution
    • Primary amenorrhea with periodic lower abdominal pain
    • Possible urinary retention, frequency, dysuria
    • Possible palpable lower abdominal mass
    • Perineal examination: tense, bulging, bluish membrane in the vulva
  • Diagnostics: primarily a clinical diagnosis; imaging may be conducted to rule out transverse vaginal septum
  • Treatment: excision of the imperforate hymen (hymenectomy)

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:
  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
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  3. Iverson RE Jr, DeCherney AH, Laufer MR. Clinical manifestations and diagnosis of congenital anomalies of the uterus. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-congenital-anomalies-of-the-uterus?source=see_link.Last updated: October 12, 2015. Accessed: February 17, 2017.
  4. Cedars MI. Intrauterine adhesions. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. http://www.uptodate.com/contents/intrauterine-adhesions.Last updated: June 3, 2016. Accessed: February 17, 2017.
  5. Lee K, Hong J, Jung H, et al. Imperforate Hymen: A Comprehensive Systematic Review. Journal of Clinical Medicine. 2019; 8 (1): p.56. doi: 10.3390/jcm8010056 . | Open in Read by QxMD
  6. Herlin MK, Petersen MB, Brännström M. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update. Orphanet J Rare Dis. 2020; 15 (1). doi: 10.1186/s13023-020-01491-9 . | Open in Read by QxMD
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  8. Rao K. Principles & Practice of Assisted Reproductive Technology. JP Medical Ltd ; 2013
  9. Uterus. https://radiopaedia.org/articles/uterus. . Accessed: March 5, 2018.
  10. Healey A. Embryology of the Female Reproductive Tract. Springer Berlin Heidelberg ; 2010

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