家族性子宫内膜异位症
Familial endometriosis.
作者信息
Kennedy S, Mardon H, Barlow D
机构信息
Nuffield Department of Obstetrics and Gynaecology, University of Oxford, John Radcliffe Hospital, United Kingdom.
出版信息
J Assist Reprod Genet. 1995 Jan;12(1):32-4. doi: 10.1007/BF02214126.
PURPOSE
The study aimed to identify families with endometriosis and to document disease severity within the families and the clinical characteristics of the affected women.
RESULTS
Two hundred and thirty women with surgically confirmed endometriosis in 100 families were identified. The families consisted of 19 mother-daughter pairs, 1 set of cousins and 56 sister pairs. There were 5 families with 3 affected sisters, 1 family with 5 affected sisters, and 18 families with > or = 3 affected members in more than one generation. The mean age at the onset of symptoms and the mean age at surgical diagnosis was 22.1 +/- 8.8 SD (range 10-46) and 31.8 +/- 7.9 SD (range 15-56) years respectively. Seventy-nine women (34.3%) had revised AFS Stage I-II disease, and 151 (65.7%) had revised AFS Stage III-IV disease.
CONCLUSION
The study confirms a familial tendency for endometriosis and supports the hypothesis that endometriosis has a genetic basis.
目的
本研究旨在识别患有子宫内膜异位症的家族，并记录家族内疾病的严重程度以及受影响女性的临床特征。
结果
在100个家族中识别出230名经手术确诊为子宫内膜异位症的女性。这些家族包括19对母女、1对堂姐妹和56对姐妹。有5个家族有3名患病姐妹，1个家族有5名患病姐妹，18个家族在不止一代中有≥3名患病成员。症状出现的平均年龄和手术诊断的平均年龄分别为22.1±8.8标准差（范围10 - 46岁）和31.8±7.9标准差（范围15 - 56岁）。79名女性（34.3%）患有修订后的美国生育学会（AFS）I - II期疾病，151名（65.7%）患有修订后的AFS III - IV期疾病。
结论
本研究证实了子宫内膜异位症的家族倾向，并支持子宫内膜异位症具有遗传基础这一假说。
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