Müllerian Aplasia with Severe Hematometra: A Case Report of Diagnosis and Management in a Low Resource Setting

Müllerian aplasia or Mayer–Rokitansky–Küster–Hauser syndrome is described as congenital absence of the proximal vagina with or without absence of the cervix and uterus, most often recognized after the onset of primary amenorrhea. An 18-year-old woman presented to a free medical clinic in Arcahaie, Haiti with primary amenorrhea, abdominal distention, and cyclic monthly abdominal pain. Physical exam was significant for uterus palpable superior to the umbilicus, absence of vagina, and rectal exam without palpable vagina or cervix. Transabdominal and transperineal ultrasound examinations did not reveal hematocolpos. Exploratory laparotomy revealed severe endometriosis with bilateral hematosalpinx, markedly distended uterus, no proximal vagina, and normal ovaries. Uterine specimen was filled with blood and no clear cervix was present. Diagnosis of vaginal and cervical agenesis is complicated in low-resource settings and treatment must be modified when subspecialty care and consistent follow-up are not available.