GENETIC DIAGNOSIS IN ADULTHOOD - A CASE-REPORT

While family physicians may readily entertain genetic diagnoses in the ir pediatric patients, they may fail to consider such diagnoses in the ir adult patients. We present the case of a man with recurrent leg ulc ers who was recognized as hypogonadal and was ultimately given the dia gnosis of Klinefelter's syndrome (XXY) at age 47. Although there is no primary treatment for XXY, significant associated conditions, includi ng osteoporosis and testosterone deficiency, can be ameliorated. We re view the clinical condition of XXY at various ages and summarize age-s pecific interventions. We discuss the importance of genetic diagnosis throughout the life span.