Shaw Gary M, Carmichael Suzan L, Kaidarova Zhanna, Harris John A
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Berkeley, California 94710, USA.
Birth Defects Res A Clin Mol Teratol. 2003 Dec;67(12):953-8. doi: 10.1002/bdra.10129.
Although many studies have observed variations in the prevalence of specific malformations by sex, there is a lack of population-based data on potential malformation prevalence differences by sex at birth.
Our objective was to explore differences in the prevalence of structural congenital malformation phenotypes between sexes in a California population of 2.5 million live- and stillbirths, using data from a population-based active surveillance system. Ascertainment was performed among offspring of California women who delivered in nonmilitary hospitals during the period of 1989-1997. Malformations were grouped according to the four-digit malformation codes of the British Pediatric Association.
Overall, 32,619 males and 21,835 females were considered to have structural congenital malformations, with prevalences of 2.52% and 1.76%, respectively. Thus, males demonstrated a malformation prevalence that was 22% higher than that in females. Using a criterion of a 40% increase or decrease in the relative risk for males, increased risks for 15 and decreased risks for 17 specific malformation categories were observed. Increased risks were associated with most organ systems, with the notable exception of the nervous system (increased risks for nervous system malformations were observed among female births). Risks were not substantially influenced by adjusting for maternal age, race/ethnicity, parity, or education.
Our observations extend the relatively few studies that have investigated differential prevalences of a large number of specific structural malformations between male and female births.
尽管许多研究观察到特定畸形的患病率存在性别差异，但缺乏基于人群的出生时潜在畸形患病率性别差异数据。
我们的目标是利用基于人群的主动监测系统的数据，探讨加利福尼亚州250万例活产和死产人群中男女结构性先天性畸形表型患病率的差异。在1989 - 1997年期间在非军事医院分娩的加利福尼亚州女性的后代中进行确诊。畸形根据英国儿科学会的四位数字畸形编码进行分组。
总体而言，32,619名男性和21,835名女性被认为患有结构性先天性畸形，患病率分别为2.52%和1.76%。因此，男性的畸形患病率比女性高22%。使用男性相对风险增加或降低40%的标准，观察到15种特定畸形类别的风险增加，17种特定畸形类别的风险降低。风险增加与大多数器官系统相关，神经系统是明显的例外（在女婴出生中观察到神经系统畸形的风险增加）。调整产妇年龄、种族/族裔、产次或教育程度后，风险没有受到实质性影响。
我们的观察结果扩展了相对较少的研究，这些研究调查了男女生育中大量特定结构畸形的患病率差异。
