Vaginal agenesis – 9 Interesting Facts

Synopsis

Key Points

  1. Congenital agenesis of the upper two-thirds of vagina with variable uterine uterine development in women with female phenotype, normal 46,XX karyotype, and usually normal ovaries; presentation can be associated with other developmental abnormalities
  2. The most common associated abnormalities involve the renal system
  3. Patients usually present with primary amenorrhea during adolescence; shallow, blind-ending vagina with no palpable uterus is found on examination
  4. Pelvic ultrasonography will confirm absence of uterus and upper two-thirds of vagina; karyotype will confirm 46,XX female
  5. Screening for other associated disorders at time of diagnosis includes spine radiographs, renal sonogram, audiogram, and echocardiogram
  6. Treatment is individualized; it is based on degree of vaginal agenesis and on patient preference
  7. Usual first line treatment involves dilator to extend vaginal space; surgery is second line treatment
  8. Referral to psychological/psychiatric services as well as support groups in the community is important
  9. Vaginal dilation is successful in up to 95% of patients in establishing vaginal length greater than 6 cm and reported satisfactory sexual intercourse

Pitfalls

  • Associated abnormalities (renal, cardiac, and vertebral) may not be apparent on physical examination, so perform specific testing for these issues
  • Obtain karyotype to exclude disorders of sexual development, such as androgen insensitivity syndrome and 17α-hydroxylase deficiency, that could be missed otherwise

Terminology

Clinical Clarification

  • Vaginal agenesis is a congenital agenesis of the upper two-thirds of the vagina with variable uterine development in women with female phenotype, normal 46,XX karyotype, and usually normal ovaries; presentation can be associated with other developmental abnormalities 1
    • Also called Mayer-Rokitansky-Küster-Hauser syndrome, Rokitansky-Küster-Hauser syndrome, müllerian agenesis, müllerian aplasia, or vaginal aplasia 2
    • Affects 1:4000 to 1:10,000 women 3 4

Classification 4 5 6

  • Type 1 (OMIM #277000) 7
    • Typical form 8
      • Isolated agenesis of the upper vagina, accompanied by some degree of cervical and uterine aplasia, with normal fallopian tubes, ovaries, and renal system without other associated defects
      • Presents with a spectrum of uterine and cervical abnormalities 9
        • Cervical and uterine agenesis are most common
        • Obstructed cavitary uterine remnants containing functional endometrial tissue occur in a minority of patients
      • Diagnosed in up to 47% of patients 5
    • Atypical form 8
      • Agenesis of the upper vagina, accompanied by some degree of cervical and uterine aplasia, associated with malformations in the ovary or renal system without other associated defects
      • Diagnosed in up to 21% of patients 5
  • Type 2 (OMIM #601076) 10
    • MURCS association (müllerian, renal, and cervicothoracic somite abnormalities) 8
      • Agenesis of the upper vagina, accompanied by some degree of cervical and uterine aplasia, associated with malformations in the ovary or renal system and axial skeletal abnormalities
      • Diagnosed in up to 32% of patients 5
  • Other abnormalities occurring overall in patients with vaginal agenesis include:
    • Renal and urogenital abnormalities (most common) 8
      • Unilateral renal agenesis
      • Ectopia of kidneys
      • Horseshoe kidney
      • Ureteral duplication
    • Skeletal abnormalities 11
      • Scoliosis
      • Fused vertebrae, mainly cervical Klippel-Feil anomaly
    • Ovarian abnormalities 9
      • Unilateral hypoplastic ovary
      • Extrapelvic ovaries
    • Less commonly associated congenital defects include the following:
      • Hearing defects or ear malformations
      • Cardiac defects
        • Aortopulmonary window
        • Atrial septal defect
        • Pulmonary valvular stenosis
        • Tetralogy of Fallot
      • Digit anomalies
        • Syndactyly
        • Polydactyly
      • Inguinal hernia
      • Vascular abnormalities are rare
        • Inferior vena cava stenosis

Diagnosis

Clinical Presentation

History

  • Adolescent with amenorrhea
    • Second most common cause of primary amenorrhea 1
    • Occasionally there may be cyclic pelvic pain when uterine remnants and endometrial tissue persist
  • Secondary sex characteristics are present, with breast development, pubic hair, and axillary hair at expected time

Physical examination

  • Women with vaginal agenesis present with normal external sex characteristics and normal height
  • Shallow vagina may be apparent on digital or speculum examination
  • Uterus not palpable on rectal or bimanual examination
  • Other associated abnormalities seen in type 2 vaginal agenesis may include the following:
    • Scoliosis
    • Syndactyly
    • Polydactyly
    • Heart murmur
    • Bulge in inguinal area, exaggerated during Valsalva maneuver (inguinal hernia)
    • Dysplastic ears

Causes and Risk Factors

Causes 4 12

  • Cause is unknown

Risk factors and/or associations

Genetics
  • Some cases are familial and suggestive of incomplete penetrance of autosomal dominant inheritance
  • Slight increased risk in daughters of women with vaginal agenesis

Diagnostic Procedures

Primary diagnostic tools

  • History and physical examination are suggestive, with findings of normal development of external sex characteristics and shallow, blind-ending vagina on specular examination
    • Vaginal canal is significantly shortened and may appear as a dimple below the urethra; a single midline uterine remnant may be present or uterine horns (with or without an endometrial cavity) may exist 2
  • Initial radiologic evaluation includes transabdominal, translabial, or transrectal ultrasonography 2
  • Obtain karyotype to confirm 46,XX 2
  • Additional testing with renal sonogram, spine radiographs, or audiogram at time of diagnosis is indicated to evaluate for any associated congenital anomalies 2

Laboratory

  • Chromosome analysis 2
    • 46,XX (normal female karyotype)

Imaging

  • Pelvic ultrasonography
    • Initial radiologic evaluation includes transabdominal, translabial, or transrectal ultrasonography 2
    • Findings include blind vagina, absent or poorly formed uterus, and normal ovaries
      • 7% to 10% of patients will have variable uterine development (from rudimentary uterine horn or horns to a uterus without a cervix) 9
  • Pelvic MRI
    • Rudimentary müllerian structures are found in 90% of patients 2
    • Can assess for the presence of endometrial activity within the müllerian structures 2
  • Renal ultrasonography
    • Evaluate for possible associated kidney abnormalities in patients with confirmed diagnosis 2
  • Spine radiography
    • Evaluate for possible associated vertebral abnormalities and scoliosis in patients with confirmed diagnosis 2
  • Echocardiography
    • Evaluate for possible associated cardiac abnormalities in patients with confirmed diagnosis
  • IV pyelogram
    • Evaluate for possible associated ureteral duplication

Functional testing

  • Audiography
    • Evaluate for possible associated hearing abnormalities in patients with confirmed diagnosis 2

Differential Diagnosis

Most common

  • Imperforate hymen
    • Presents with primary amenorrhea
    • Because uterus is present, there may be cyclic pain and pelvic mass due to obstructed outflow tract and subsequent hematocolpos
    • Examination finds absence of typical fringe of hymenal tissue that is present in vaginal agenesis
    • Differentiate from vaginal agenesis by physical examination, which may show bluish membrane covering the vaginal opening, or by ultrasonography, which will show enlarged vagina, normal uterus, and hematocolpos
  • Low transverse vaginal septum
    • Presents with primary amenorrhea
    • Because uterus is present, there may be cyclic pain and pelvic mass due to obstructed outflow tract and subsequent hematocolpos
    • Differentiate from vaginal agenesis by ultrasonography, which will show low transverse vaginal septum, normal uterus, and hematocolpos
  • Isolated vaginal atresia
    • Presents with primary amenorrhea
    • Because uterus is present, there may be cyclic pain and pelvic mass due to obstructed outflow tract and subsequent hematocolpos
    • Differentiate from vaginal agenesis by ultrasonography, which will show atretic vaginal opening, normal uterus, and hematocolpos
  • 46,XY disorders of sexual development
    • In androgen insensitivity, the gonads are testes that produce androgens, but the androgen receptors are absent or not functional
    • Patients with androgen insensitivity usually have normal breast development but sparse pubic and axillary hair because of peripheral conversion of androgens to estrogens. No uterus or cervix is present because the testes produce antimüllerian hormone
    • In 17α-hydroxylase deficiency, usual findings are normal female external genitalia, blind short vaginal pouch, no uterus, and dysgenetic intra-abdominal testes; often presents with lack of puberty development in a teen who is phenotypically female
    • Differentiate disorders of sexual development from vaginal agenesis by 46,XY karyotype

Treatment

Goals

  • Treatment is individualized based on presentation and patient goals
  • Manage anatomic abnormality with nonsurgical dilation or surgical approach to create a neovagina once patient is ready for sexual intercourse
  • Address anxiety and psychological distress that often accompany the diagnosis

Disposition

Recommendations for specialist referral

  • Treatment involves a multidisciplinary team approach tailored to patient age and presentation
  • Gynecology referral is indicated for evaluation and management of vaginal abnormality
    • Gynecologist may refer to more specialized gynecologic surgeon, urologist, or plastic surgeon for vaginal reconstruction, depending on local expertise and experience
  • Endocrinology to evaluate, and advise patient about, reproductive issues
  • Psychology and/or psychiatry to address emotional issues that are likely to accompany diagnosis and treatment
  • Nephrology for any associated kidney disease
  • Orthopedics for any associated skeletal abnormalities
  • Cardiology for any associated cardiac abnormalities
  • Otolaryngology and audiology for any associated hearing abnormalities
  • General surgeon for any associated inguinal hernia

Treatment Options

Treatment to create neovagina is nonsurgical, surgical, or both. It should always be accompanied by appropriate psychological support 1 2 13

  • Timing depends on patient’s emotional maturity and desire for intervention

Nonsurgical treatment is recommended as first line approach 1 by American Congress of Obstetricians and Gynecologists 2

  • Involves use of dilator to extend vaginal space
  • Method requires presence of at least 2- to 4-cm vaginal dimple
  • Most common is Frank dilator method, during which a plastic dilator is applied for at least 20 minutes daily for 6 weeks to several months
  • Success rate is high with this method: 78% to 95% 14 15

Surgical treatment

  • No consensus on best surgical approach 16
  • Depends on experience of surgeon, local anatomy, and patient preference
  • Involves creation of vaginal canal of adequate size for sexual intercourse

Women who have had treatment to create a functional vagina require ongoing routine gynecologic care

  • Includes screening for sexually transmitted diseases and malignancies

Nondrug and supportive care

Psychological support 2 13

  • For all patients, most especially teenagers, provide counseling to address anxiety with diagnosis and to emphasize that healthy sexual relationships are possible
  • Discuss future fertility options
    • Assisted reproductive techniques with gestational carrier are possible
  • Ongoing counseling throughout treatment is important
  • Community support groups may be helpful
Procedures
Surgical creation of neovaginal space 2

General explanation

  • Typically performed by gynecologic surgeon
  • Most common approach involves placing of a stent covered with a skin graft in area that has been dissected between rectum and bladder, and it usually involves postoperative vaginal dilation (modified Abbe-McIndoe operation)
  • Alternative approach involves dissection of the rectovesicular space with abdominal mobilization of a segment of the peritoneum and subsequent attachment of the peritoneum to the introitus (Davydov procedure)
  • Combination of surgical and nonsurgical approach involves continuous dilation with traction device that is temporarily attached to vaginal wall (laparoscopic Vecchietti procedure)
  • Dilators must intermittently be used until the patient engages in regular and frequent sexual intercourse

Indication

  • Failure of nonsurgical dilation for vaginal agenesis
  • Vaginal dimple too small for dilation approach

Contraindications

  • Unwillingness to use dilation techniques postoperatively; most approaches rely on some degree of postoperative manual dilation or frequent sexual intercourse

Complications

  • Bladder or rectal perforation
  • Graft necrosis
  • Fistulae
  • Diversion colitis
  • Inflammatory bowel disease
  • Adenocarcinoma

Complications and Prognosis

Complications

  • Nonsurgical intervention with dilator is usually safe but occasionally can result in complications, as follows:
    • Infection (urethritis or cystitis)
    • Vesicovaginal or rectovaginal fistula
    • Prolapse
    • Pain
  • Surgical intervention has higher risk of complications, including the following:
    • Infection
    • Hematoma
    • Anastomotic leak
    • Prolapse
    • Stenosis
    • Stricture or contracture
    • Scarring
    • Vesicovaginal or rectovaginal fistula
    • Bowel obstruction
    • Graft necrosis
  • Psychological complications
    • Diminished overall mental health is reported among women with vaginal agenesis syndrome, but mental health outcome data is limited 17
      • Increased generalized anxiety is most often reported
  • Infertility and inability to carry a pregnancy 8
    • Eggs harvested from normal ovaries and use of in vitro fertilization of gestational carrier can result in biologic offspring

Prognosis

  • Prognosis depends somewhat on definition of successful outcome (apparent success judged clinically versus reported sexual satisfaction on surveys)
  • Vaginal dilation is successful in up to 95% of patients 14 15
    • Success defined as vaginal length greater than 6 cm with uniform width and sexual satisfaction reported in surveys
You cannot copy content of this page