ArticleCureus2025
Unveiling Psychiatric Complexities in 48,XXYY Syndrome: A Case Study.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
3 authors.
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Abstract
The 48,XXYY syndrome sex chromosome variation is a genetic condition defined by the presence of an extra X and Y chromosome, confirmed with karyotype testing. Despite their similarities, 48,XXYY syndrome is distinct from Klinefelter syndrome on account of several factors, including psychiatric ones. This case report focuses on an individual with a history of 48,XXYY syndrome, autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD) who had multiple psychiatric presentations for worsening depression and suicidal ideation. This case explores some of the comorbid psychiatric conditions considered in this patient's presentations and reviews the existing literature to contemplate the differential diagnosis. The individual in this case exhibited behaviors linked to ASD or underlying personality disorder traits that initially complicated treatment, but with increasing familiarity and collateral history, appropriate recommendations were made. 48,XXYY syndrome warrants further interest, as it has had limited coverage in the literature. It would be valuable to examine how this patient's psychiatric profile compares to those of patients with other extra X or Y chromosome syndromes.
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