Endocrine Abstracts

Introduction: Klinefelter syndrome may involve multiple organ systems. The CNS, magnetic resonance brain imaging (MRI) findings (white matter changes, reduction in ventricular volume and brain size) are under recognised.

We present the case report of a 47-year-old man with schizophrenia who presented with a 4-month history of lethargy, self-neglect and decline in cognitive function. Brain MRI revealed abnormal white matter changes in left frontal and temporal lobes with extension into the basal ganglia. Cerebrospinal fluid analysis revealed a high protein level and normal cytology. Infectious (herpes simplex, toxoplasma, cryptococcus), autoimmune and paraneoplastic causes of encephalitis were excluded. EEG was consistent with encephalopathy; no epileptiform activity was noted. Stereotactic brain biopsy revealed non-specific changes. He initially received empirical treatment for viral encephalitis without clinical improvement. He later responded to treatment with corticosteroids and supportive measures.

Subsequent clinical evaluation revealed long-standing erectile dysfunction, gynaecomastia, abdominal obesity and reduced testicular volume (10 ml). He was found to have hypergonadotrophic hypogonadism (testosterone 6.3 nmol/l (nr 10–32), FSH 18.9 IU/l (nr 1.0–12.0), LH 25.6 IU/l (nr 1.0–12.0). Karyotyping confirmed mosaic Klinefelter syndrome (KS) (47XXY/46XX). Dual-energy X-ray absorptiometry (DEXA) scan revealed osteopenia. Testosterone, calcium and vitamin D were initiated. Repeat brain MRI scan revealed normal pituitary. The abnormal white matter changes in the frontal lobes persisted with some regression of the temporal lobe changes.

Conclusions: Klinefelter syndrome is under diagnosed and has a higher prevalence in people with schizophrenia. In the presence of unexplained CNS, white matter changes on MRI and clinical features of hypogonadism, karyotyping to exclude Klinefelter syndrome should be considered.