PDF(Pubmed)
Abstract：
Turner syndrome (TS) is the most common sex chromosome disorder affecting females and is usually diagnosed within the first 3 decades of life. It can present with primary amenorrhea or infertility and often has a typical phenotype, with associated medical conditions that require lifelong surveillance. We report the case of a 76-year-old female with a history of osteoporosis and vertebral fractures who presented to our specialist osteoporosis clinic following a neck of femur fracture. She revealed a history of short stature and primary amenorrhea as a young woman, with limited investigation and treatment. Her other medical history included coeliac disease, hypertension, and hearing and vision abnormalities. Given her phenotype, the patient was referred for a karyotype at age 76, which was consistent with mosaic TS (45, X in 78% of cells and 46, X, r(Y) in the remaining cells). We review reports of other cases of marked delay in TS diagnosis and discuss the consequences of a late diagnosis.
摘要：
特纳综合征（TS）是影响女性的最常见的性染色体疾病，通常在生命的前30年内被诊断出来。它可以表现为原发性闭经或不孕症，并且通常具有典型的表型，与相关的医疗条件，需要终身监测。我们报告了一名76岁的女性，有骨质疏松症和椎骨骨折的病史，她在股骨颈骨折后出现在我们的专业骨质疏松症诊所。她透露了年轻女性身材矮小和原发性闭经的历史，有限的调查和治疗。她的其他病史包括乳糜泻,高血压,听力和视力异常.鉴于她的表型,患者在76岁时被转诊为核型，这与马赛克TS一致(78%的细胞中45，X，46，X，其余单元格中的r（Y））。我们回顾了其他TS诊断明显延迟的病例的报告，并讨论了晚期诊断的后果。
