Clinical Features and Decision making of Congenital Vaginal Agenesis Combined with Cervical Aplasia: Case Report and Literature Review

Abstract

Objective: To present the case of a teenage girl with vaginal agenesis and review current literature on recommended courses of action. A 12-year-old girl with KBG genetic syndrome was admitted to the Pediatric Unit with recurrent acute abdominal pain, vomiting, dehydration, and primary amenorrhea. Physical examination revealed advanced pubertal development, and a negative swab test. Magnetic Resonance Imaging (MRI) showed complete vaginal agenesis, septated uterus with cervical aplasia, hematometra, and hematosalpinx. Open hysterectomy was decided upon due to acute abdominal pain and the risk of endometriosis and infection. She progressed favorably and was discharged two days after surgery. Conclusion: Congenital complete vaginal agenesis with cervical aplasia is a rare obstructive malformation of the genital tract. Generally, hysterectomy is recommended due to the high risk of stenosis, infection, and adhesions. Vaginoplasty is an option when the patient is mature enough to undergo the procedure. Attempts to preserve the uterus and fertility in patients with complete cervical atresia have a small sample size. In this case, the decision to perform a hysterectomy was considered the most appropriate to suit her social circumstances.