Anomalies of the female genital tract

Last updated: November 25, 2022

Summary

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

Incidence: 3–4/100 female individuals
Pathophysiology
- Defective fusion of the Müllerian ducts during embryonal development
- Normally functioning gonads and female karyotype → normal development of secondary sexual characteristics (e.g., breast, pubic hair development)

Anomalies of Müllerian duct fusion ^[1]
Types of fusion anomalies	Relative frequency	Pathophysiology
Müllerian agenesis	Rare	Both of the Müllerian ducts fail to develop, leading to the absent or hypoplastic uterus, absent cervix, and vaginal agenesis (but functional ovaries)
Unicornuate uterus	10%	One of the Müllerian ducts fails to develop
Didelphic uterus	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 Uterus bicornis unicollis: double uterus, single cervix, and single vagina Uterus bicornis bicollis: double uterus and double cervix with/without a vaginal septum
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	Rare	In-utero exposure to diethylstilbestrol Vagina: adenosis, adenocarcinoma Cervix: cockscomb cervix, cervical collar Uterus: T-shaped uterine cavity, hypoplasia, uterine synechiae Fallopian tube: abnormal fimbriae, cornual budding

Clinical features
- Asymptomatic before puberty
- Infertility and dyspareunia
- In some cases, periodic lower abdominal pain
- Menorrhagia
  - Müllerian agenesis: primary amenorrhea in a female individual with fully-developed secondary sexual characteristics
- Increased risk of the following obstetric complications:
  - Cervical incompetence
  - Ectopic pregnancy
  - Preterm labor
  - Malpresentation
  - Obstructed or prolonged labor
  - Retained placenta → postpartum hemorrhage
  - Recurrent midtrimester abortions
- Associated with urological complications; (e.g., renal agenesis, pelvic kidney, horseshoe kidney) and skeletal malformations (e.g., cervicothoracic somite dysplasia)
Diagnostics
- Screening tests
  - Transvaginal or abdominal ultrasound
  - Hysterosalpingography
- Confirmatory test: MRI
- Renal ultrasound should be performed in all patients to screen for renal abnormalities. ^[2]
Treatment
- Surgical treatment is usually not recommended in the following situations:
  - Another treatable cause of infertility co-exists
  - The woman is asymptomatic
- Metroplasty: reconstruction of the uterus
- Septoplasty: a type of metroplasty that only involves resection of the septum in a separate uterus

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.

Anomalies of the uterus II Bicornuate uterus (Uterus bicornis bicollis) Anomalies of the uterus III Imaging of uterine anomalies

Intrauterine adhesions (Asherman syndrome)

Definition: endometrial adhesions or fibrosis
Etiology
- Following uterine dilation or curettage (most common cause)
- Postinflammatory (e.g., chlamydia)
Clinical features
- Usually asymptomatic
- Abnormal uterine bleeding
- Secondary amenorrhea
- Infertility
- Recurrent pregnancy loss
- Periodic abdominal pain
Diagnostics ^[3]
- Negative progesterone withdrawal test: No bleeding after progesterone cessation suggests blockage of the outflow tract.
- Confirmatory test: hysteroscopy to directly visualize adhesions
- Hysterosalpingography: honeycomb appearance of the uterus
Treatment
- Hysteroscopic resection of the adhesions
- Treatment is only indicated if patients are symptomatic.

Individuals with Asherman syndrome have intrauterine Adhesions.

References:^[4]^[5]^[6]

Anomalies of the vulva and vagina

Imperforate hymen

Definition: a hymen without an opening
Epidemiology: 1:1000—2000 female individuals ^[7]
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
- An expanding hematocolpos and/or hematometra may compress surrounding structures and cause constipation, urinary retention, radicular pain; , and/or back pain.
Diagnostics: primarily a clinical diagnosis; imaging may be conducted to rule out transverse vaginal septum
Treatment: excision of the imperforate hymen (hymenectomy) and evacuation of the accumulated blood

Agenesis of the upper vagina

Definition: a condition in which the vagina is abnormally closed or absent
Epidemiology: 1/5000 female individuals ^[8]
Etiology: Müllerian agenesis
Pathophysiology
- Agenesis or hypoplasia of the Müllerian duct → atresia of the upper-third of the vagina
- Normally functioning gonads and female karyotype → normal development of secondary sexual characteristics (e.g., breast, pubic hair development)
- Associated anomalies
  - Absent or malformed uterus and cervix (in almost all cases)
  - Urological malformations (25–50% of cases): single kidney, pelvic kidney, horseshoe kidney
  - Skeletal malformations (10–15% of cases)
Clinical features
- Asymptomatic before puberty
- Primary amenorrhea
- Infertility
- Dyspareunia
- Perineal examination: vaginal dimple and a hymenal fringe
Diagnostics
- Normal levels of LH, FSH, prolactin, estradiol, and testosterone
- Ultrasound
  - Absent or malformed uterus (e.g., hemiuterus, rudimentary uterus)
  - Normal ovaries
  - Possible associated malformations of the kidneys or urinary tract
- MRI to determine if functional endometrium is present
Treatment: vaginoplasty

Agenesis of the lower vagina

Etiology: abnormal development of the sinovaginal bulbs and vaginal plate
Clinical features
- Primary amenorrhea
- Cyclic pelvic pain
Diagnostics
- Vaginal dimple may be present on physical exam
- Palpable abdominal mass due to distention of the upper vagina
- Confirmatory tests: ultrasound or MRI
  - Normal ovaries, uterus, cervix, and upper vagina
  - Measurement of the distance from introitus to obstruction
Treatment: surgical pull-through procedure

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
- Asymptomatic before puberty
- Primary amenorrhea
- Infertility
- Periodic lower abdominal pain
- Possibly, palpable lower abdominal mass
- Perineal examination: normal vulva and external genitalia
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:
- Absence of estrogen → predisposition to mild infection ; → local inflammation → raw surface epithelium of the labia minora → adhesions
- In rare cases: trauma (sexual abuse), congenital defect
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:
- Application of topical estrogen

References

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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
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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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.
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