Patterns of co-occurring birth defects among infants with hypospadias.
Patterns of co-occurring birth defects among infants with hypospadias.
复制标题
尿道下裂婴儿合并出生缺陷的模式。
DOI：
10.1016/j.jpurol.2020.11.015
复制
发表时间：
2021-03
影响因子：
2
通讯作者：
Agopian AJ
中科院分区：
文献类型：
--
作者：
Ludorf KL;Benjamin RH;Navarro Sanchez ML;McLean SD;Northrup H;Mitchell LE;Langlois PH;Canfield MA;Scheuerle AE;Scott DA;Schaaf CP;Ray JW;Oluwafemi O;Chen H;Swartz MD;Lupo PJ;Agopian AJ
尿道下裂是最常见的男性生殖器出生缺陷之一，在美国每200名男性新生儿中就有1名发生，并且在全球范围内的患病率正在增加。本研究旨在描述先天性缺陷的复杂聚集模式，同时描述与尿道下裂同时发生的出生缺陷的组合，其发生频率高于预期。我们分析了1999年至2014年间出生的尿道下裂和至少一个额外的合并缺陷的病例，这些病例来自德克萨斯州出生缺陷登记处。对于每种组合，我们使用协同缺陷分析（CODA）计算了调整后的预期（O/E）比率。在16，442例尿道下裂患者中，2，084例（12.7%）至少有一个额外的缺陷。在最高校正O/E比值内的许多出生缺陷组合包括心脏、肌肉骨骼和其他泌尿生殖缺陷。例如，调整后O/E为139.0的最高组合包括肾发育不全和发育不全、上肢复位缺陷和上肢其他异常（包括肩带）。在包括泌尿生殖发育领域以外的缺陷的组合中也观察到高调整的O/E比。例如，具有最高O/E比的组合包括牛眼、先天性白内障和透镜异常（调整后的O/E比：192.9）。当我们仅分析二度或三度尿道下裂的病例时，也得到了类似的结果。预期顶部结果中的许多组合（例如，多发性泌尿生殖系统缺陷）;然而，一些看似不相关的缺陷模式的组合可能表明存在一些尚未确定的病因机制。总之，本研究描述了尿道下裂合并缺陷的模式，可以为进一步的研究提供信息，并为筛查和诊断实践提供见解。
Hypospadias, one of the most common male genital birth defects, occurs in 1 out of every 200 male births in the United States and is increasing in prevalence globally. This study aimed to characterize the combinations of birth defects that co-occur with hypospadias more often than expected by chance, while accounting for the complex clustering patterns of congenital defects. We analyzed cases with hypospadias and at least one additional co-occurring defect from the Texas Birth Defect Registry born between 1999 and 2014. For each combination, we calculated adjusted observed-to-expected (O/E) ratios, using Co-Occurring Defect Analysis (CODA). Among 16,442 cases with hypospadias and without known syndromes, 2,084 (12.7%) had at least one additional defect. Many of the birth defect combinations within the highest adjusted O/E ratios included cardiac, musculoskeletal, and additional urogenital defects. For example, a top combination with an adjusted O/E of 139.0 included renal agenesis and dysgenesis, reduction defects of the upper limb, and other anomalies of upper limb (including shoulder girdle). High adjusted O/E ratios were also observed in combinations that included defects outside of the urogenital developmental field. For instance, the combination with the highest O/E ratio included buphthalmos, and congenital cataract and lens anomalies (adjusted O/E ratio: 192.9). Similar results were obtained when we restricted our analyses to cases with second- or third-degree hypospadias. Many combinations in the top results were expected (e.g., multiple urogenital defects); however, some combinations with seemingly unrelated patterns of defects may suggest the presence of some etiologic mechanisms yet to be identified. In summary, this study described patterns of co-occurring defect combinations with hypospadias that can inform further study and may provide insights for screening and diagnostic practices.
登录
查看更多内容
影响因子：
5.1
作者：
OPITZ, JM
通讯作者：
OPITZ, JM
DOI：
10.1002/ajmg.1320370213
发表时间：
1990-10-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KHOURY, MJ;JAMES, LM;ERICKSON, JD
通讯作者：
ERICKSON, JD
DOI：
10.1136/bmj.j2249
发表时间：
2017-05-30
期刊：
BMJ (Clinical research ed.)
影响因子：
--
作者：
Feldkamp ML;Carey JC;Byrne JLB;Krikov S;Botto LD
通讯作者：
Botto LD
影响因子：
1.3
作者：
Solomon, Benjamin D.;Raam, Manu S.;Pineda-Alvarez, Daniel E.
通讯作者：
Pineda-Alvarez, Daniel E.
影响因子：
13.2
作者：
Parikh, CR;McCall, D;Schrier, RW
通讯作者：
Schrier, RW