Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report

Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report

Klinefelter syndrome (KS), characterized by an additional X-chromosome in males, manifests in a wide range of neuroendocrine and psychiatric symptoms. Individuals with KS often face increased risks of hormonal dysfunction, leading to depression and anxiety, although extended research during pediatri...

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Bibliographic Details
Published in:Children (Basel) Vol. 11; no. 5; p. 509
Main Authors: Panvino, Fabiola, Paparella, Roberto, Gambuti, Luisiana, Cerrito, Andrea, Menghi, Michela, Micangeli, Ginevra, Petrella, Carla, Fiore, Marco, Tarani, Luigi, Ardizzone, Ignazio
Format: Journal Article
Language:English
Published: Switzerland MDPI AG 01-05-2024
Subjects:
Academic achievement
Adults
Anxiety
Attention deficit hyperactivity disorder
Autism
Behavior
Brain research
Case reports
Child development
Children
Children & youth
Cognition & reasoning
depression
Emotional regulation
Emotions
Executive function
Infertility
Klinefelter syndrome
Klinefelter's syndrome
Language
Males
Mental depression
Mental disorders
mosaicism
Neuropsychology
Pediatrics
prepubertal
Psychology, Pathological
Psychopathology
Swaab, D.F
Teenagers
Testosterone
X chromosomes
Klinefelter syndrome
anxiety
depression
psychopathology
prepubertal
mosaicism
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Summary:Klinefelter syndrome (KS), characterized by an additional X-chromosome in males, manifests in a wide range of neuroendocrine and psychiatric symptoms. Individuals with KS often face increased risks of hormonal dysfunction, leading to depression and anxiety, although extended research during pediatric and adolescent age is still limited. This critical phase, decisive for KS children, is influenced by a combination of genetic, environmental and familial factors, which impact brain plasticity. In this report, we reviewed, in a narrative form, the crucial KS psychopathological hallmarks in children. To better describe neuroendocrine and neuropsychiatric outcomes in children with KS, we presented the case of an 11-year-old prepubertal child with mosaic KS who was referred to our Center of Developmental Psychopathology due to a decline in his academic performance, excessive daytime fatigue and increased distractibility over the past few months. Family history revealed psychiatric conditions among first- and second-degree relatives, including recently divorced parents and a 15-year-old sister. Early-onset persistent depressive disorder and anxious traits were diagnosed. Timely identification of susceptible children, with thorough examination of familial psychiatric history, environmental influences and neurocognitive profile, alongside targeted interventions, could potentially mitigate lifelong psychopathology-related disabilities in pediatric and adolescent KS cases, including those with mosaic KS.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
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ISSN:2227-9067
2227-9067
DOI:10.3390/children11050509