Tyler C V, Kungl P A, Green L A
Family Practice Residency, Fairview Hospital, Cleveland, Ohio, USA.
J Fam Pract. 1998 Sep;47(3):227-30.
While family physicians may readily entertain genetic diagnoses in their pediatric patients, they may fail to consider such diagnoses in their adult patients. We present the case of a man with recurrent leg ulcers who was recognized as hypogonadal and was ultimately given the diagnosis of Klinefelter's syndrome (XXY) at age 47. Although there is no primary treatment for XXY, significant associated conditions, including osteoporosis and testosterone deficiency, can be ameliorated. We review the clinical condition of XXY at various ages and summarize age-specific interventions. We discuss the importance of genetic diagnosis throughout the life span.
虽然家庭医生可能很容易接受对儿科患者进行基因诊断，但他们可能不会考虑对成年患者进行此类诊断。我们介绍了一名患有复发性腿部溃疡的男性病例，该患者被诊断为性腺功能减退，最终在47岁时被确诊为克兰费尔特综合征（XXY）。虽然XXY没有主要治疗方法，但包括骨质疏松症和睾酮缺乏症在内的显著相关病症可以得到改善。我们回顾了XXY在不同年龄段的临床状况，并总结了针对特定年龄段的干预措施。我们讨论了终生进行基因诊断的重要性。
