Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents

47,XYY syndrome is associated with a distinct and heterogeneous neuropsychiatric phenotype that extends beyond early neurodevelopmental disorders. Early diagnosis alone may be insufficient to prevent severe psychiatric outcomes, highlighting the need for long-term monitoring and integrated, multidisciplinary management. Further research is required to identify early predictors of high-risk trajectories and to optimize treatment strategies for this population.

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Publication Details

Journal
Brain Sciences
Published
2026-02-15
DOI
https://doi.org/10.3390/brainsci16020232
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
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article

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents

Stefano Berloffa, Deianira Rinaldi, Marika Ricci, Chiara Bosetti et al.
Brain Sciences
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents

Stefano Berloffa, Deianira Rinaldi, Marika Ricci, Chiara Bosetti, Maria Giulia D’Acunto, Gabriele Masi, Maria Mucci
article en

Abstract

47,XYY syndrome is associated with a distinct and heterogeneous neuropsychiatric phenotype that extends beyond early neurodevelopmental disorders. Early diagnosis alone may be insufficient to prevent severe psychiatric outcomes, highlighting the need for long-term monitoring and integrated, multidisciplinary management. Further research is required to identify early predictors of high-risk trajectories and to optimize treatment strategies for this population.

Brain SciencesVol. 16(2)
University of Pisa (IT), Fondazione Stella Maris (IT)
Good health and well-being
Openalex Percentile: Top 52%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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