Bauer S B, Bull M J, Retik A B
J Urol. 1979 Apr;121(4):474-7. doi: 10.1016/s0022-5347(17)56832-9.
The families of 177 boys with varying degrees of hypospadias were evaluated prospectively to determine the occurrence of hypospadias and other congenital anomalies within this population. A significant number of male subjects in each family member category were affected, with first degree relatives (brothers and fathers) having a 14 and 9 per cent incidence, respectively. Siblings were at a greater risk for having this anomaly when the proband had a more severe degree of hypospadias and when the abnormality also was present in other relatives. A multifactorial mode of inheritance is suggested as the basis for transmission of this congenital defect.
对177名患有不同程度尿道下裂的男孩家庭进行了前瞻性评估，以确定该人群中尿道下裂和其他先天性异常的发生率。每个家庭成员类别中有相当数量的男性受试者受到影响，一级亲属（兄弟和父亲）的发生率分别为14%和9%。当先证者的尿道下裂程度更严重且其他亲属也存在异常时，兄弟姐妹患这种异常的风险更大。提示多因素遗传模式是这种先天性缺陷传递的基础。
