Agopian A J, Langlois Peter H, Ramakrishnan Anushuya, Canfield Mark A
Division of Epidemiology, Human Genetics and Environmental Sciences, Human Genetics Center, University of Texas School of Public Health, Houston, Texas.
Am J Med Genet A. 2014 Apr;164A(4):943-9. doi: 10.1002/ajmg.a.36389. Epub 2014 Jan 23.
Although distinct categories of male genital malformations share some common risk factors, few studies have systematically compared epidemiologic features across phenotypes. We evaluated the relationship between several maternal and infant characteristics and five categories of male genital malformations: second- or third-degree hypospadias, hypospadias (regardless of degree), small penis, cryptorchidism, and any male genital malformation. Data for 16,813 cases with isolated male genital malformations and 1,945,841 male live births delivered from 1999 to 2008 were obtained from the Texas Birth Defects Registry. For each phenotype category, 13 maternal and infant variables were assessed, and adjusted prevalence ratios were estimated based on the same multivariable Poisson regression model. A significant negative association was observed between previous live births versus no previous live births and four phenotypes (e.g., adjusted prevalence ratio [aPR] for any male genital malformation: 0.78, 95% confidence interval [CI]: 0.75-0.81). The prevalence of 4 of the phenotypes was significantly higher among multiple versus singleton pregnancies (e.g., aPR for any male genital malformation: 1.35, 95% CI: 1.25-1.47). We also observed significant associations between multiple phenotypes and residential region at delivery, delivery year, month of conception, and maternal age, race/ethnicity, education, and birthplace, including significant associations for trends (maternal age, maternal education, and birth year modeled ordinally). Our results allow for comparison of characteristics across phenotypes and suggest that there may be some common risk factors for multiple male genital malformations (e.g., characteristics related to maternal estrogen levels), while other risk factors may be unique to specific defects.
尽管不同类型的男性生殖器畸形有一些共同的风险因素，但很少有研究系统地比较不同表型的流行病学特征。我们评估了几种母亲和婴儿特征与五类男性生殖器畸形之间的关系：二度或三度尿道下裂、尿道下裂（无论程度如何）、小阴茎、隐睾症以及任何男性生殖器畸形。1999年至2008年期间，从德克萨斯州出生缺陷登记处获取了16813例孤立性男性生殖器畸形病例和1945841例男性活产的数据。对于每个表型类别，评估了13个母婴变量，并基于相同的多变量泊松回归模型估计了调整后的患病率比。在既往有活产史与无既往活产史之间，观察到与四种表型存在显著负相关（例如，任何男性生殖器畸形的调整患病率比[aPR]：0.78，95%置信区间[CI]：0.75 - 0.81）。多胎妊娠与单胎妊娠相比，4种表型的患病率显著更高（例如，任何男性生殖器畸形的aPR：1.35，95% CI：1.25 - 1.47）。我们还观察到多种表型与分娩时的居住地区、分娩年份、受孕月份以及母亲年龄、种族/民族、教育程度和出生地之间存在显著关联，包括趋势的显著关联（母亲年龄、母亲教育程度和出生年份按顺序建模）。我们的结果允许对不同表型的特征进行比较，并表明可能存在一些多种男性生殖器畸形的共同风险因素（例如，与母亲雌激素水平相关的特征），而其他风险因素可能特定于某些缺陷。
