From mania to diagnosis: a case report of Klinefelter syndrome unmasked by a bipolar disorder

Abstract

Klinefelter syndrome (KS), characterized by an additional X chromosome in males, remains an underdiagnosed condition despite its prevalence. This case report delves into the multidimensional impact of KS, particularly its often-overlooked association with psychiatric disorders, notably bipolar disorder. We present the case of a 36-year-old man initially diagnosed with Bipolar Disorder Type I during a manic phase. Despite apparent improvement with conventional pharmacotherapy, recurrent syncopal attacks led to an endocrine referral, revealing an underlying KS diagnosis. The patient exhibited typical clinical features, including gynecomastia and testicular abnormalities, alongside neuropsychiatric manifestations. The patient's history of sexual abuse and familial mental illness hints at complex etiological factors influencing his psychiatric presentation. 

Moreover, the co-occurrence of KS and bipolar disorder raises questions about the syndrome's psychological impact, including its implications for self-image and coping mechanisms. This case emphasizes the imperative for a comprehensive multidisciplinary approach to understand and manage complex psychiatric presentations. It highlights the necessity of considering physiological and psychological factors in comprehensive psychiatric assessments and treatment plans. Furthermore, it underscores the need for specialized multidisciplinary clinics to provide comprehensive care for individuals with KS, addressing their diverse medical, psychological, and social needs. Further research is needed to elucidate the intricate connections between genetic predispositions, psychological trauma, and mood disorders, particularly in the context of rare genetic conditions such as KS.