Akierman Sarah V, Skappak Christopher D, Girgis Rose, Ho Josephine
Department of Biological Sciences, University of Calgary, Calgary, Alberta, Canada.
J Pediatr Endocrinol Metab. 2013;26(5-6):587-9. doi: 10.1515/jpem-2012-0408.
We report on a patient who initially presented with delayed puberty and an absent uterus on imaging with ultrasound and MRI. She was subsequently diagnosed with Turner Syndrome. Turner Syndrome typically presents with early loss of ovarian function and should be considered when primary ovarian insufficiency is present with apparent absent uterus on imaging. Follow-up imaging of the apparent absent uterus post-estrogen replacement therapy is important to confirm a normal uterus. A diagnosis of an absent uterus can be psychologically traumatic for patients and families, and can have significant implications for future fertility options.
我们报告了一名患者，其最初表现为青春期延迟，超声和磁共振成像（MRI）检查显示子宫缺如。她随后被诊断为特纳综合征。特纳综合征通常表现为卵巢功能早期丧失，当存在原发性卵巢功能不全且影像学检查显示子宫明显缺如时，应考虑该病。雌激素替代治疗后对明显缺如的子宫进行随访成像对于确认子宫正常很重要。子宫缺如的诊断对患者及其家庭可能造成心理创伤，并可能对未来的生育选择产生重大影响。
