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- Title
Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children—A Literature Review and Case Report.
- Authors
Panvino, Fabiola; Paparella, Roberto; Gambuti, Luisiana; Cerrito, Andrea; Menghi, Michela; Micangeli, Ginevra; Petrella, Carla; Fiore, Marco; Tarani, Luigi; Ardizzone, Ignazio
- Abstract
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.
- Subjects
KLINEFELTER'S syndrome; NIGHT terrors; SPEECH; SADNESS; COGNITIVE testing; NEUROPHYSIOLOGY; FATIGUE (Physiology); EXECUTIVE function; PARENT-child relationships; FAMILY history (Medicine); ANXIETY; AFFECTIVE disorders; LITERATURE reviews; ACADEMIC achievement; DISTRACTION; DIVORCE; HEALTH outcome assessment; SHAME; INTERPERSONAL relations; PATHOLOGICAL psychology; MENTAL depression; LEARNING disabilities; BASHFULNESS; SLEEP disorders; SOCIAL isolation; CHILDREN
- Publication
Children, 2024, Vol 11, Issue 5, p509
- ISSN
2227-9067
- Publication type
Article
- DOI
10.3390/children11050509