The psychosocial impact of Klinefelter syndrome--a 10 year review

To describe psychosocial morbidity in a cohort of young males with hypogonadism due to Klinefelter syndrome, to document the effect of androgen replacement on behaviour, to underline issues confronting clinicians involved in treatment of this condition and to demonstrate a need for a structured program for prospective intervention for this group. We also compare this group to young men with hypogonadotrophic hypogonadism.

A retrospective audit of patients with Klinefelter and Kallmann syndromes, presenting for medical assessment from 1994-2004.

Postpubertal males with Klinefelter syndrome (n = 32) and Kallmann syndrome (n = 19) were audited by chart review for psychosocial comorbidities, pubertal management, and the need for exogenous testosterone.

Seventeen of 32 postpubertal patients with Klinefelter syndrome required testosterone therapy while 11 were documented to have serum testosterone in the normal adult range. All patients with Kallmann syndrome required long term testosterone treatment. Significant psychosocial and behavioural problems were present in 22/32 of patients with Klinefelter syndrome, including seven who were testosterone replete, with an identifiable pattern of disorder, including marked lack of insight, poor judgement and impaired ability to learn from adverse experience. Use of long term replacement testosterone treatment reduced episodes of behavioural indiscretion. Of those patients with Kallmann syndrome, 5/19 reported mild depressive symptoms only, all resolving with testosterone replacement.

Inadequately treated hypogonadism in Klinefelter syndrome increases recognized psychosocial morbidity. There is a need for prospectively planned and timed support for young men with Klinefelter syndrome, to ameliorate current poor psychosocial outcomes.