尿道下裂的遗传和环境因素
Genetic and environmental factors in hypospadias.
作者信息
Stoll C, Alembik Y, Roth M P, Dott B
机构信息
Institut de Puériculture, Hôpital Civil, Strasbourg, France.
出版信息
J Med Genet. 1990 Sep;27(9):559-63. doi: 10.1136/jmg.27.9.559.
Abstract
A case control study of hypospadias was performed from 1979 to 1987 in Alsace, north-eastern France. A total of 176 out of 60 847 male infants had hypospadias giving a prevalence at birth of 2.89 per 1000 male newborns; 15.3% of all infants with hypospadias also had other malformations. Renal and urinary tract malformations were present in 37.0% of the infants with hypospadias and other additional malformations. None of the numerous aetiological factors which were studied was correlated with hypospadias except low weight of the placenta. The recurrence risk for brothers was 17.0% (an empirical risk of about 1 in 6) and the heritability coefficient was 56.9%. First degree relatives of infants with hypospadias had more malformations other than hypospadias than controls. These results have to be taken into consideration for genetic counselling.
摘要
1979年至1987年期间，在法国东北部的阿尔萨斯进行了一项关于尿道下裂的病例对照研究。在60847名男婴中，共有176名患有尿道下裂，出生患病率为每1000名男婴中有2.89例；所有尿道下裂婴儿中，15.3%还患有其他畸形。尿道下裂婴儿中，37.0%同时存在肾脏和尿路畸形以及其他额外畸形。除胎盘重量低外，所研究的众多病因因素均与尿道下裂无关。兄弟的复发风险为17.0%（经验风险约为六分之一），遗传系数为56.9%。尿道下裂婴儿的一级亲属比对照组有更多除尿道下裂以外的畸形。进行遗传咨询时必须考虑这些结果。
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