Calzolari E, Contiero M R, Roncarati E, Mattiuz P L, Volpato S
J Med Genet. 1986 Aug;23(4):333-7. doi: 10.1136/jmg.23.4.333.
Epidemiological and genetic variables in hypospadias were analysed during the years 1978 to 1983 in a case control study of congenital malformations in the Emilia Romagna region of northern Italy. During the observation period, in a sample of 41 078 male newborns, 168 had hypospadias giving a prevalence at birth of 4.1 in 1000 males. Hypospadias was divided into three types: type I or mild (75.0%); type II or moderate (21.4%); and type III or severe (3.6%). Coexisting malformations were found in 8.9% of cases. The heritability coefficient was 0.669. Maternal risk factors correlated with hypospadias were found to be early age at menarche, threatened abortion, and exposure to progestins. Low birth weight and shorter gestation were also correlated with hypospadias.
1978年至1983年期间,在意大利北部艾米利亚-罗马涅地区进行的一项先天性畸形病例对照研究中,分析了尿道下裂的流行病学和遗传变量。在观察期内,在41078名男性新生儿样本中,168例患有尿道下裂,出生时患病率为每1000名男性中有4.1例。尿道下裂分为三种类型:I型或轻度(75.0%);II型或中度(21.4%);III型或重度(3.6%)。8.9%的病例存在合并畸形。遗传系数为0.669。发现与尿道下裂相关的母亲风险因素为初潮年龄早、先兆流产和接触孕激素。低出生体重和较短的妊娠期也与尿道下裂相关。