Absence of endometrium as a cause of primary amenorrhea

Objective To describe congenital endometrial absence. Design Case report. Setting University hospital. Patient(s) A 32-year-old woman presented with primary amenorrhea and infertility. Hormone analysis, physical and gynecologic examinations, transvaginal ultrasonography, and karyotype analysis were normal. Intervention(s) Progesterone challenge test, laparoscopy, hysteroscopy were performed, and hysteroscopic biopsies were obtained from the uterine cavity. Main Outcome Measure(s) Presence of endometrium, menstruation. Result(s) The progesterone challenge test was negative. Laparoscopy revealed normal pelvic structures. Evaluation of biopsies from uterine cavity revealed absence of endometrium. Conclusion(s) Endometrial absence is a differential diagnosis for primary amenorrhea; assessment of the uterine cavity and obtaining biopsy samples may help in diagnosis of suspected cases before they undergo assisted reproduction and can avoid unnecessary treatment.