Unveiling Psychiatric Complexities in 48,XXYY Syndrome: A Case Study.

Document Type

Article

Publication Date

8-22-2025

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.

Publication Title

Cureus

Volume

17

Issue

8

First Page

90743

Last Page

90743

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