Fact-sheet: Vaginal agenesis
Updated on 10/07/2017 at 7:37 AM
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Definition
Mayer-Rokitansky-Küster-Hauser syndrome = MRKH.
Rare disease (1/5,000-10,000).
Congenital aplasia of the uterus and the upper two-thirds of the vagina due to defective development of the Müllerian ducts.
- Sporadic cases.
- An increasing number of familial cases have been detected, suggesting a genetic origin. In this case, transmission is autosomal dominant with incomplete penetrance and variable expression.
Clinical features
Often discovered during adolescence, in a context of primary amenorrhea.
Secondary sexual characteristics are developed.
Normal karyotype (46,XX).
Type I = isolated.
Type II = associated with other malformations:
- Renal malformations (50% of cases): unilateral renal agenesis, pelvic kidney.
- Skeletal malformations, mainly involving the spine: scoliosis (20%), vertebral malformation (hemivertebral fusion), Klippel-Feil syndrome (fusion of the cervical vertebrae resulting in a short neck, congenital torticollis, and a low posterior hairline)
- ENT: conductive hearing loss due to middle ear malformation.
- Cardiac malformations: rhythm disturbance (right bundle branch block), atrial septal defect, Tetralogy of Fallot, pulmonary artery stenosis.
Laboratory findings
Normal endocrine workup.
Normal karyotype (46,XX)
Radiography
Screening for skeletal malformations:
- Scoliosis
- Vertebral malformations
- Klippel-Feil syndrome
Ultrasound
Abdominopelvic ultrasound:
no uterine structure is visualized.
The ovaries are of normal size and morphology, multi-follicular.
Normal fallopian tubes.
Associated renal malformations.
Transthoracic echocardiography may reveal associated cardiac malformations.
CT
No uterine structure is visualized.
The ovaries are of normal size and morphology, multi-follicular.
Small vagina.
Screening for associated ENT malformations.
MRI
No uterine structure is visualized.
The ovaries are of normal size and morphology, multi-follicular.
Normal fallopian tubes.
Vaginal hypoplasia.
Management
Diagnostic laparoscopy and genetic counseling to confirm the diagnosis. Family screening.
Surgical management if needed: vaginal reconstruction to allow satisfactory sexual function.
Assisted reproductive technology.
Psychological support.
Differential diagnosis
- Isolated vaginal agenesis.
- WNT4 syndrome: associated with hyperandrogenism.
- Androgen insensitivity syndrome: the diagnosis may be considered in complete syndrome (male-type karyotype, female phenotype, Müllerian derivatives that may or may not be developed, testes in abdominal or inguinal position)
- Müllerian aplasia: associated with X chromosomal abnormality.