An additional Y chromosome occurs in ~1 in 1,000 males, resulting in the karyotype 47,XYY. The phenotype includes tall stature, hypotonia, neuropsychiatric comorbidities, and an increased risk of infertility in adulthood. Little is known about testicular function in childhood and adolescence in 47,XYY. This cross‐sectional study aimed to assess testicular function serum biomarkers, including total testosterone, inhibin B, and anti‐mullerian hormone (AMH), in 82 boys with XYY (11.3 ± 3.8 years) compared with 66 male controls (11.6 ± 3.8 years). The association of testicular hormones with physical features, neuropsychological phenotype, and magnetoencephalography (MEG) was assessed with multiple linear regression models. Results indicate males with XYY have significantly lower inhibin B (median 84 pg/ml vs. 109 pg/ml, p = .004) and higher AMH (median 41 ng/ml vs. 29 ng/ml, p = .011); however, testosterone, testicular volume, and stretched penile length were not different from controls. In the exploratory analysis of relationships between hormone concentrations and phenotypic assessments, higher inhibin B concentrations were positively correlated with lower BMI and better cognitive, academic, and behavioral outcomes in the XYY group. Testosterone concentrations were positively associated with better behavioral outcomes in boys with XYY. Higher testosterone and inhibin B concentrations were also associated with shorter auditory latencies measured using magnetoencephalography (MEG) in XYY. With a few exceptions, testicular hormones were not associated with phenotypic outcomes in controls. In conclusion, there is evidence of subtle impaired testicular function in boys with XYY and a newly described relationship between measures of testicular function and some aspects of the XYY phenotype.

中文翻译：

---

47,XYY 男孩睾丸功能及其与表型的关系。


每 1,000 名男性中就有 1 人有一条额外的 Y 染色体，形成核型 47,XYY。该表型包括身材高大、肌张力低下、神经精神合并症以及成年后不孕风险增加。 47,XYY 对儿童期和青春期睾丸功能知之甚少。这项横断面研究旨在评估 82 名 XYY 男孩（11.3 ± 3.8 岁）与 66 名男性对照组（11.6 ± 3.8 岁）的睾丸功能血清生物标志物，包括总睾酮、抑制素 B 和抗苗勒氏管激素 (AMH)。 ）。使用多元线性回归模型评估睾丸激素与身体特征、神经心理学表型和脑磁图（MEG）的关联。结果表明，患有 XYY 的男性具有显着较低的抑制素 B（中位数 84 pg/ml 与 109 pg/ml， p = .004）和较高的 AMH（中位数 41 ng/ml 与 29 ng/ml， p = .011）；然而，睾酮、睾丸体积和拉伸阴茎长度与对照组没有差异。在对激素浓度与表型评估之间关系的探索性分析中，XYY 组中较高的抑制素 B 浓度与较低的 BMI 以及更好的认知、学业和行为结果呈正相关。睾酮浓度与 XYY 男孩更好的行为结果呈正相关。较高的睾酮和抑制素 B 浓度也与在 XYY 中使用脑磁图 (MEG) 测量的较短的听觉潜伏期相关。除少数例外，睾丸激素与对照组的表型结果无关。 总之，有证据表明 XYY 男孩的睾丸功能存在轻微受损，并且新描述了睾丸功能测量值与 XYY 表型某些方面之间的关系。