Depression as a Diagnostic Clue to Undiagnosed Klinefelter Syndrome
Depression is a common disorder which will affect a significant number of men and women throughout their lives. The clinical assessment of patients with depression will often include a physical examination and a screen for common biochemical and haematological abnormalities which may be linked to depression. Ensuring normal thyroid function would be considered a standard endocrine investigation for the condition. We present 2 case histories of adult men who suffered significant depression in early adult life requiring an extended period of pharmocological treatment. Ultimately both men were diagnosed with Klinefelter syndrome. Both men had characteristic features of the condition. One was diagnosed following routine karyotyping for infertility. The other self diagnosed through the internet with clues to diagnosis being his abnormal body fat distribution and tall stature. Both were ultimately found to have profoundly low levels of testosterone, small testes, lack of facial hair and azoospermia. The time between the period of severe depression and diagnosis was many years in both cases. Given the challenges and problems linked to depression many of these men may never be diagnosed in adult life due to a failure for them to achieve reproductive opportunities. These cases suggest that Klinefelter syndrome should be considered as a potential diagnosis in young men with depression who may have clinical evidence suggesting low levels of circulating testosterone. Following diagnosis administration of exogenous testosterone may confer significant benefits for this group of patients.