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.