Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are reported in clinical practice of reproductive endocrinology. They are some of several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis, but accurate confirmation of Mullerian agenesis can be extremely challenging by image modalities. We report a case of a seventeen years old female, 46 XX karyotype, with ovarian dysgenesis and a presumed diagnosis of uterine agenesis which was proven incorrect after post estrogen replacement. A diagnosis of an absent uterus may bring psychological trauma to patients and families, which will have significant implications on future fertility options. No conclusion should be made regarding the status of the uterus until adequate exposure to exogenous estrogen has been completed and reassessed.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology