Genetic screening / counselling

遗传筛查 / 咨询
  • 文章类型: Case Reports
    一名50多岁患有特纳综合征的妇女被转诊到内分泌诊所,在COVID-19大流行期间,她一直不知道自己的诊断,直到她收到英国政府的屏蔽信。尽管在她的全科医生记录中诊断为特纳综合征,并且尽管接受了18岁的青春期缺失和原发性闭经的腹腔镜检查,她之前没有接受过任何激素治疗或心血管筛查.虽然特纳综合症很罕见,英国生物银行的最新数据表明,它可能被诊断不足。临床医生应了解特纳综合征的临床特征和相关并发症,以避免延误诊断和错过治疗机会。在这份报告中,我们讨论了这种罕见综合征的临床特征以及目前的筛查和治疗指南.我们强调通过患者主导的团体进行点对点支持和信息共享的重要性,比如特纳综合症支持协会。
    A woman in her 50s with Turner syndrome was referred to the endocrine clinic, having been unaware of her diagnosis until she received a shielding letter from the UK government during the COVID-19 pandemic. Despite a neonatal diagnosis of Turner syndrome on her general practitioner record and despite having undergone laparoscopic examination for absent puberty and primary amenorrhoea aged 18 years, she had not received any prior hormone treatment or cardiovascular screening.Though Turner syndrome is rare, recent data from the UK Biobank suggest that it may be underdiagnosed. Clinicians should be aware of the clinical features and associated complications of Turner syndrome to avoid delayed diagnosis and missed opportunities for treatment.In this report, we discuss the clinical features of this rare syndrome and current guidelines for screening and treatment. We stress the importance of peer-to-peer support and information sharing through patient-led groups, such as the Turner Syndrome Support Society.
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