کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8778187 | 1599760 | 2018 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Familial deep endometriosis: A rare monogenic disease?
ترجمه فارسی عنوان
اندومتریوز عمیق خانوادگی: یک بیماری مونوژنیک نادر است؟
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کلمات کلیدی
اندومتریوز عمیق درد مزمن لگن، دیسمنوره، سقط جنین، ژن، ژنتیک،
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
زنان، زایمان و بهداشت زنان
چکیده انگلیسی
Endometriosis is a frequent cause of pelvic pain and subfertility in women of reproductive age. Presence of extraâuterine endometrial-like tissue is responsible for non-specific symptoms such as chronic pelvic pain, dysmenorrhea, dyspareunia, dyschesia and sometimes infertility. Three different phenotypes according to the location of the lesions are described, namely peritoneal, ovarian and deep infiltrating endometriosis. Deep endometriosis is considered as a distinct homogeneous disease. Heritability of endometriosis has been previously demonstrated. Despite extensive efforts to characterize candidate alleles contributing to genetic basis of endometriosis, these factors relevant to endometriosis pathophysiology remain unclear. No high penetrance pathogenic variant could be identified. We report herein two families with familial aggregation of severe deep infiltrating endometriosis, providing further evidence for monogenic mendelian inheritance of this form of endometriosis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Obstetrics & Gynecology and Reproductive Biology - Volume 221, February 2018, Pages 190-193
Journal: European Journal of Obstetrics & Gynecology and Reproductive Biology - Volume 221, February 2018, Pages 190-193
نویسندگان
Bertrand Isidor, Xenia Latypova, Stéphane Ploteau,