Panvino Fabiola, Paparella Roberto, Gambuti Luisiana, Cerrito Andrea, Menghi Michela, Micangeli Ginevra, Petrella Carla, Fiore Marco, Tarani Luigi, Ardizzone Ignazio
Department of Human Neuroscience, Section of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Rome, Italy.
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy.
Children (Basel). 2024 Apr 24;11(5):509. doi: 10.3390/children11050509.
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.
克兰费尔特综合征（KS）的特征是男性额外多了一条X染色体，表现为广泛的神经内分泌和精神症状。KS患者往往面临激素功能障碍风险增加的问题，进而导致抑郁和焦虑，不过针对儿童和青少年时期的深入研究仍然有限。这个对KS患儿至关重要的阶段受到遗传、环境和家庭因素的综合影响，这些因素会影响大脑可塑性。在本报告中，我们以叙述形式回顾了儿童KS关键的精神病理学特征。为了更好地描述KS患儿的神经内分泌和神经精神学结果，我们介绍了一名11岁青春期前的嵌合型KS患儿的病例，该患儿因过去几个月学业成绩下降、白天过度疲劳和注意力分散加剧而被转诊至我们的发育精神病理学中心。家族史显示一级和二级亲属中有精神疾病，包括最近离婚的父母和一个15岁的姐姐。该患儿被诊断为早发性持续性抑郁障碍和焦虑特质。及时识别易感儿童，全面检查家族精神病史、环境影响和神经认知特征，并进行针对性干预，可能会减轻儿科和青少年KS病例（包括嵌合型KS病例）与精神病理学相关的终身残疾。
