A hallmark of Wilson disease (WD) is a highly variable clinical presentation and a lack of clear genotype-phenotype correlation. This implies that modifying factors are likely to affect the clinical course of this disease and the site of initial presentation (1). In recent studies, several modifying genes have been evaluated, e.g. XIAP (2) or MTHFR (3), which might influence copper processing or cellular capacity to handle copper toxicity. In this context, Letwin and coworkers reported gender differences in WD, especially in clinical presentation and onset of neuro-psychiatric symptoms (4). Likewise Ferenci and coworkers observed that female patients suffering from WD are more likely to present with hepatic symptoms and acute liver failure (5). The underlying mechanisms are not fully elucidated yet, however, sex hormones are likely to play a major role.
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