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Abstract：
OBJECTIVE: High-grade aneuploidies of X and Y sex chromosomes (HGAs) are exceedingly rare and complex conditions. We aimed to investigate the effect of supernumerary X chromosomes (extra-Xs) on the clinical, hormonal, metabolic, and echocardiographic features of patients with HGAs.
METHODS: In a cross-sectional study, we compared 23 subjects with HGAs and 46 age-matched subjects with 47,XXY Klinefelter syndrome (KS), according to the number of extra-Xs: two (47,XXY and 48,XXYY), three (48,XXXY and 49,XXXYY), or four supernumerary Xs (49,XXXXY). A second cohort consisting of 46 pubertal stage-matched KS subjects was employed for validation. Clinical, hormonal, metabolic and ultrasonographic parameters were collected and analyzed.
RESULTS: The increase in the number of extra-Xs was associated with a progressive adverse effect on height, pubertal development, testicular volume and function, adrenal steroidogenesis, and thyroid function. A progressive linear increase in ACTH and a decrease in cortisol/ACTH ratios were found. Weight and body mass index, Sertoli cell function, lipid profile, and glucose tolerance post-oral glucose tolerance test were all worse in the HGA cohort compared to KS. Cardiac evaluation revealed a linear association with reduced left and right end-diastolic diameters and reduced ejection fraction.
CONCLUSIONS: The increase in the number of extra-Xs is associated with a \"dose-dependent\" progressive impairment in steroid producing glands, thyroid function, cardiac structure, and performance.
METHODS: In a cross-sectional study, we compared 23 subjects with HGAs and 46 age-matched subjects with 47,XXY Klinefelter syndrome (KS), according to the number of extra-Xs: two (47,XXY and 48,XXYY), three (48,XXXY and 49,XXXYY), or four supernumerary Xs (49,XXXXY). A second cohort consisting of 46 pubertal stage-matched KS subjects was employed for validation. Clinical, hormonal, metabolic and ultrasonographic parameters were collected and analyzed.
RESULTS: The increase in the number of extra-Xs was associated with a progressive adverse effect on height, pubertal development, testicular volume and function, adrenal steroidogenesis, and thyroid function. A progressive linear increase in ACTH and a decrease in cortisol/ACTH ratios were found. Weight and body mass index, Sertoli cell function, lipid profile, and glucose tolerance post-oral glucose tolerance test were all worse in the HGA cohort compared to KS. Cardiac evaluation revealed a linear association with reduced left and right end-diastolic diameters and reduced ejection fraction.
CONCLUSIONS: The increase in the number of extra-Xs is associated with a \"dose-dependent\" progressive impairment in steroid producing glands, thyroid function, cardiac structure, and performance.
摘要：
目的：X和Y性染色体（HGA）的高级非整倍性是极其罕见和复杂的条件。我们的目的是研究多余的X染色体（extra-Xs）对临床的影响，荷尔蒙，新陈代谢，HGA患者的超声心动图特征。
方法：在一项横断面研究中，我们比较了23名HGA受试者和46名年龄匹配的47名受试者，XXYKlinefelter综合征（KS），根据额外X的数量：两个（47，XXY和48，XXYY），三个（48，XXXY和49，XXXYY），或四个额外的X（49，XXXXY）。由46名青春期阶段匹配的KS受试者组成的第二组用于验证。临床,荷尔蒙，收集并分析代谢和超声参数.
结果：额外X数的增加与对身高的进行性不利影响有关，青春期发育,睾丸体积和功能，肾上腺类固醇生成，和甲状腺功能。发现ACTH逐渐线性增加，皮质醇/ACTH比率降低。体重和体重指数，支持细胞功能，血脂谱,与KS相比，HGA队列中的葡萄糖耐量试验和葡萄糖耐量试验均较差。心脏评估显示与左，右舒张末期直径减小和射血分数减小呈线性关系。
结论：额外Xs数量的增加与类固醇产生腺体的“剂量依赖性”进行性损害有关，甲状腺功能,心脏结构,和性能。
方法：在一项横断面研究中，我们比较了23名HGA受试者和46名年龄匹配的47名受试者，XXYKlinefelter综合征（KS），根据额外X的数量：两个（47，XXY和48，XXYY），三个（48，XXXY和49，XXXYY），或四个额外的X（49，XXXXY）。由46名青春期阶段匹配的KS受试者组成的第二组用于验证。临床,荷尔蒙，收集并分析代谢和超声参数.
结果：额外X数的增加与对身高的进行性不利影响有关，青春期发育,睾丸体积和功能，肾上腺类固醇生成，和甲状腺功能。发现ACTH逐渐线性增加，皮质醇/ACTH比率降低。体重和体重指数，支持细胞功能，血脂谱,与KS相比，HGA队列中的葡萄糖耐量试验和葡萄糖耐量试验均较差。心脏评估显示与左，右舒张末期直径减小和射血分数减小呈线性关系。
结论：额外Xs数量的增加与类固醇产生腺体的“剂量依赖性”进行性损害有关，甲状腺功能,心脏结构,和性能。
