Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children—A Literature Review and Case Report
Fabiola Panvino,
Roberto Paparella,
Luisiana Gambuti,
Andrea Cerrito,
Michela Menghi,
Ginevra Micangeli,
Carla Petrella,
Marco Fiore,
Luigi Tarani,
Ignazio Ardizzone
Affiliations
Fabiola Panvino
Department of Human Neuroscience, Section of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy
Roberto Paparella
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Luisiana Gambuti
Department of Human Neuroscience, Section of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy
Andrea Cerrito
Department of Human Neuroscience, Section of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy
Michela Menghi
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Ginevra Micangeli
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Carla Petrella
Institute of Biochemistry and Cell Biology, National Research Council (IBBC-CNR), 00185 Rome, Italy
Marco Fiore
Institute of Biochemistry and Cell Biology, National Research Council (IBBC-CNR), 00185 Rome, Italy
Luigi Tarani
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy
Ignazio Ardizzone
Department of Human Neuroscience, Section of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy
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.
