The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the genital system'. This group was divided into two subgroups: those with hypospadias and without hypospadias. Associated phenotypes of the two subgroups were compared and analysed. Of the 166 Deciphering Developmental Disorders participants with hypospadias and neurodevelopmental delay, 47 (28%) had cardiovascular and 40 (24%) had structural brain abnormalities. The rate of cardiovascular abnormalities in those with neurodevelopmental delay and genital abnormalities other than hypospadias (N = 645) was lower at 19% (P = 0.001). In addition, structural brain malformations were higher at 24% in the hypospadias group versus 15% in the group without hypospadias (P = 0.002). The constellation of these features occured at a higher rate in the hypospadias group versus the no hypospadias group (P = 0.038). In summary, this is the first study to indicate that cardiovascular and brain abnormalities are frequently encountered in association with hypospadias in children with neurodevelopmental disorders. Not only do these associations provide insight into the underlying aetiology but also they highlight the multisystem involvement in conditions with hypospadias.

中文翻译：

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在患有神经发育障碍的儿童中，心脏疾病和大脑结构异常通常与尿道下裂相关。

我们研究的目的是利用已建立的男孩队列研究尿道下裂患者的畸形的常见模式。我们回顾性分析了神经发育迟缓和“生殖器系统异常”的发育性发育障碍研究参与者的表型。该组分为两个亚组：患有尿道下裂和没有尿道下裂的人。比较和分析了两个亚组的相关表型。在166名患有尿道下裂和神经发育迟缓的儿童中，有47名（28％）患有心血管疾病，而40名（24％）具有大脑结构异常。具有神经发育迟缓和除尿道下裂以外的生殖器异常的患者的心血管异常发生率（N = 645）较低，为19％（P = 0.001）。此外，尿道下裂组的结构性脑畸形较高，为24％，而无尿道下裂的组为15％（P = 0.002）。与没有尿道下裂的组相比，尿道下裂组的这些特征的发生率更高（P = 0.038）。总而言之，这是第一项表明患有神经发育障碍的儿童与尿道下裂相关的心血管和脑部异常的常见研究。这些关联不仅提供了对潜在病因的洞察力，而且还突显了尿道下裂情况下多系统的参与。与没有尿道下裂的组相比，尿道下裂组的这些特征的发生率更高（P = 0.038）。总而言之，这是第一项表明患有神经发育障碍的儿童与尿道下裂相关的心血管和脑部异常的常见研究。这些关联不仅提供了对潜在病因的洞察力，而且还突显了尿道下裂情况下多系统的参与。与没有尿道下裂的组相比，尿道下裂组的这些特征的发生率更高（P = 0.038）。总而言之，这是第一项表明患有神经发育障碍的儿童与尿道下裂相关的心血管和脑部异常的常见研究。这些关联不仅提供了对潜在病因的洞察力，而且还突显了尿道下裂情况下多系统的参与。