Klinefelter Syndrome Diagnosis Masked by Opioid Use Disorder.

Klinefelter syndrome (KS) is a chromosomal disorder characterized by the presence of an extra X chromosome in males (47, XXY). Individuals with KS often exhibit a range of physical, cognitive, and behavioral symptoms, including tall stature, gynecomastia, reduced libido, and varying degrees of infertility. A major diagnostic challenge arises when individuals with KS exhibit symptoms that are obscured by comorbid conditions, such as opioid use disorder (OUD). Individuals with OUD or psychiatric disease may exhibit symptoms similar to those of KS. Misattribution of symptoms can lead to delayed or missed diagnosis of Klinefelter's syndrome, underscoring the importance of a thorough evaluation, particularly in the presence of substance use disorders. In this case report, we illustrate the diagnostic challenges posed by OUD in a 39-year-old male patient with a unique case of undiagnosed KS.

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Human subjects: Consent was obtained or waived by all participants in this study. University Pittsburgh Medical Center Lititz issued approval N/A. As long as no personal identifiable information is used and all information presented for publication is de-identified per the Health Insurance Portability and Accountability Act (HIPAA) regulations, this research is exempt under 45 CFR 46.102(l)(1) and 45 CFR.46.104(d)(4). Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.