Management of congenital cervical atresia with vaginal aplasia: A case report and review of the literature

Abstract

Introduction: Vaginal agenesis is a rare congenital condition, with an incidence of 1 in 4500 female births.

Case report: We present a clinical case of vaginal aplasia with cervical atresia in a 31-year-old woman with primary amenorrhea. We aim to report the diagnostic process and provide a comprehensive outline of different possible treatments.

Discussion: The most common etiology of these agenesis cases is Mayer-Rokitansky-Küster-Hauser syndrome associated with uterine aplasia. However, vaginal aplasia can occur in 9 % of cases where the uterus is present. During embryogenesis, the Müllerian ducts give rise to the fallopian tubes, uterus, and upper two-thirds of the vagina, while the lower portion of the vagina develops from the urogenital sinus. Vaginal aplasia arises from a failure in the development of the terminal portion of the paramesonephric ducts. Abdominal pain, especially periodic pain, is the most common symptom, followed by primary amenorrhea. MRI is considered the gold standard for the diagnosis and precise description of female genital tract anomalies.

Conclusion: Total hysterectomy remains a preferred option for cases of complete vaginal atresia to mitigate the risk of cervical or vaginal stenosis, adhesions, and pelvic inflammation resulting from poor menstrual blood drainage.

Keywords: Cervical atresia; Müllerian anomalies; Vaginal agenesis; Vaginal aplasia.

Fig. 1

Image of the vulva with developed and pendulous labia minora.

Fig. 2

Sagittal and frontal section of a pelvic MRI showing uterine enlargement with significant hematomata and absence of the cervix and vaginal cavity.

Fig. 3

image of an inter-annexal hysterectomy.

Fig. 4

Classification of uterine anomalies by ESHRE/ESGE [6].