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.