Quality of life is reduced in patients with Klinefelter syndrome on androgen replacement therapy.

CONTEXT Klinefelter syndrome (KS) is a genetic disorder, characterized by an XXY karyotype, hypergonadotrophic hypogonadism and infertility, which affects approximately 1 in 700 men. KS has also been associated with neuropsychological alterations. OBJECTIVE To investigate whether quality of life (QoL) is reduced in patients with KS on androgen treatment. DESIGN Observational study. METHODS Questionnaires (RAND-36) were sent to 46 KS patients on androgen treatment who regularly visit the outpatient clinic of an academic medical centre. QoL scores were compared with a Dutch male reference group. RESULTS Forty (87%) questionnaires were returned which were suitable for evaluation. KS patients had significantly lower (worse) scores on eight of the nine domains of the RAND questionnaire compared with the male reference group. In KS patients, higher education was associated with significantly better QoL scores. CONCLUSIONS QoL is reduced in patients with KS on androgen treatment.