CASE-CONTROL STUDY OF WHETHER SUBFERTILITY IN MEN IS FAMILIAL
CASE-CONTROL STUDY OF WHETHER SUBFERTILITY IN MEN IS FAMILIAL
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DOI：
10.1136/bmj.309.6954.570
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发表时间：
1994-09-03
影响因子：
105.7
通讯作者：
MUELLER, R
中科院分区：
文献类型：
--
作者：
LILFORD, R;JONES, AM;MUELLER, R
目的：检验男性不育症是家族性的假设，并检验不育症在家庭中的分布与遗传原因的一致性。设计病例对照研究和分离分析。在利兹设立两所教学医院。受试者-病例(先证者)是指在不育症诊所就诊的男性精子数异常，且其伴侣没有影响生育的主要因素。对照组是通过输精管结扎诊所或妇产科招募的两个或两个以上儿童的父亲。主要结果指标--有伴侣的兄弟、姐妹以及二级和三级男性亲属中非自愿无子女的发生率。结果：148名先证者的兄弟中有17人(11.5%)曾因无子女而寻求医学咨询(P<；0.0005)，而对照组的169名兄弟中没有一人因无子女而寻求医学咨询。四个先驱不止一个不由自主地失去了孩子的兄弟。另有6个兄弟的无子女被认为是非自愿的，使先证者兄弟中的总不育率达到16%。分离分析符合常染色体隐性遗传模式，占男性不育症的60%。346名先证者的叔叔中有17人(4.9%)和420名对照的叔叔中有10人(2.8%)被报告为非自愿无子女(P=0.09)，但姐妹间的无子女情况无差异。在三个家庭中，受影响的兄弟的精子计数证实了这一诊断，并在家庭内显示出相当大的相似性，但在家庭之间则不是。结论-男性不育症有家庭成分，观察到的结果与超过一半的常染色体隐性遗传模式一致。可能有几个不同的基因参与其中。
Objective-To test the hypothesis that subfertility in men is familial and to examine the distribution of subfertility within families for consistency with a genetic cause.Design-Case-control study and segregation analysis.Setting-Two teaching hospitals in Leeds.Subjects-Cases (probands) were men with an abnormal sperm count who attended a subfertility clinic and whose partners had no major factor contravening fertility. Controls were fathers of two or more childen recruited through vasectomy clinics or a maternity department.Main outcome measures-The incidence of involuntary childlessness among brothers with partners and among sisters and second and third degree male relatives. When possible clinical and laboratory details were obtained from involuntarily childless brothers.Results-Seventeen of the 148 (11.5%) brothers of probands but none of the 169 brothers of controls had sought medical advice for childlessness (P < 0.0005). Four probands had more than one involuntarily childless brother. There were six further brothers whose childlessness was thought to be involuntary bringing the total prevalence of subfertility among brothers of probands to 16%. Segregation analysis was consistent with an autosomal recessive mode of inheritance accounting for 60% of subfertility in men. Seventeen of the 346 (4.9%) uncles of probands and 10 of 420 (2.8%) uncles of controls were reported to be involuntarily childless (P = 0.09), but there was no difference in childlessness among sisters. In three families sperm counts from ''affected'' brothers confirmed the diagnosis and showed considerable similarities within but not between families.Conclusion-Subfertility in men has a familial component, and the observations are consistent with an autosomal recessive mode of inheritance in over half the cases. Several different genes are probably involved.