克兰费尔特综合征——全科医学视角
Klinefelter syndrome - a general practice perspective.
作者信息
Bourke Elyssia, Herlihy Amy, Snow Pamela, Metcalfe Sylvia, Amor David
机构信息
BMedSce (Hons), Medical Student, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, and Department of Clinical Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC.
出版信息
Aust Fam Physician. 2014 Jan-Feb;43(1):38-41.
BACKGROUND
Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected.
OBJECTIVE
To increase awareness among general practitioners of their role in the diagnosis and management of KS.
DISCUSSION
KS has a highly varied phenotype comprising a range of physical and psychosocial features and comorbidities. For patients diagnosed with KS, a range of management strategies can be used to improve health outcomes and quality of life.
背景
克兰费尔特综合征（KS）是一种常见的遗传性疾病，每450名男性中就有1人受其影响，但只有不到一半的患者被诊断出来。
目的
提高全科医生对其在KS诊断和管理中作用的认识。
讨论
KS具有高度多样化的表型，包括一系列身体和心理社会特征以及合并症。对于被诊断为KS的患者，可以采用一系列管理策略来改善健康结果和生活质量。
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