Samango-Sprouse Carole A, Hamzik Mary P, Gropman Eliana, Brooks Michaela R, Powell Sherida, Taylor Alexa M, Sadeghin Teresa, Gropman Andrea L
Department of Research, The Focus Foundation, Davidsonville, MD; Department of Human and Molecular Genetics, Florida International University, Miami, FL; Department of Pediatrics, George Washington University, Washington, DC.
Department of Research, The Focus Foundation, Davidsonville, MD.
Genet Med. 2023 Jul;25(7):100847. doi: 10.1016/j.gim.2023.100847. Epub 2023 Apr 13.
49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents with complex musculoskeletal abnormalities, decreased cognitive capabilities, speech and language dysfunction, and behavioral complications. Hormonal replacement therapy, or testosterone replacement therapy, is associated with improved neurodevelopmental and behavioral outcomes in males with 49,XXXXY. Two forms of testosterone replacement therapy, early hormonal treatment (EHT) and hormonal booster therapy (HBT), are associated with improved neurodevelopmental and behavioral outcomes in these boys. This study investigates the impact of EHT and HBT on behavioral symptoms in males with 49,XXXXY.
A total of 59 individuals were divided into 4 groups: 19 no testosterone (no-T), 23 EHT, 6 HBT, and 11 EHT and HBT. An analysis of variance examined group differences on the Child Behavior Checklist and the Behavior Rating Inventory of Executive Function ranging from 5 to 18 years.
Although no differences were identified on the Behavior Rating Inventory of Executive Function, the 3 hormonal replacement therapy groups presented with decreased complications on numerous variables on the Child Behavior Checklist; these include somatic complaints (P = .0095), somatic problems (P = .041), internalizing problems (P = .034), externalizing problems (P = .0001), and withdrawn/depression (P = .025).
This study presents evidence that HBT may be a beneficial treatment for individuals with 49,XXXXY.
49,XXXXY（发生率为1:85,000 - 100,000）是一种罕见的性染色体非整倍体疾病，常伴有复杂的肌肉骨骼异常、认知能力下降、言语和语言功能障碍以及行为并发症。激素替代疗法或睾酮替代疗法与49,XXXXY男性患者神经发育和行为结果的改善相关。两种形式的睾酮替代疗法，即早期激素治疗（EHT）和激素强化治疗（HBT），与这些男孩神经发育和行为结果的改善相关。本研究调查了EHT和HBT对49,XXXXY男性患者行为症状的影响。
总共59名个体被分为4组：19名未接受睾酮治疗（无睾酮组），23名接受EHT治疗，6名接受HBT治疗，11名接受EHT和HBT治疗。方差分析检验了5至18岁儿童行为检查表和执行功能行为评定量表上的组间差异。
虽然在执行功能行为评定量表上未发现差异，但3个激素替代疗法组在儿童行为检查表的多个变量上并发症减少；这些变量包括躯体主诉（P = .0095）、躯体问题（P = .041）、内化问题（P = .034）、外化问题（P = .0001）以及退缩/抑郁（P = .025）。
本研究提供的证据表明，HBT可能是治疗49,XXXXY患者的一种有益疗法。
