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a case with late onset of ambiguous genitalia
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نویسنده
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gargari soraya saleh ,azizi faezeh ,saleh nasrin ,omrani mir davood
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منبع
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international journal of reproductive biomedicine - 2017 - دوره : 15 - شماره : 3 - صفحه:175 -178
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چکیده
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Background: ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. case: in this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. the proband was a 12 yr old girl without any uterus or ovarian tissues. karyotype of the case is 46, xy. genes involved in sexual differentiation such as ar, srd5a2, lh, lhr, fsh, 17 b hsd and sry genes were sequenced in both directions. no mutations were found in these genes either. conclusion: it seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.
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کلیدواژه
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ambiguous genitalia ,male pseudohermaphroditism ,mutations.
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آدرس
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shahid beheshti university of medical sciences, mahdieh hospital, feto-maternal unit, ایران, shahid beheshti university of medical sciences, faculty of medicine, department of medical genetics, ایران, shaheed rajaei cardiovascular medical and research center, icu unit, ایران, shahid beheshti university of medical sciences, faculty of medicine, department of medical genetics, ایران
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ویژگی های بالینی، ژنتیکی، و پاتولوژیکی در موردی با شروع دیر هنگام ابهام دستگاه تناسلی
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Authors
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صالح گرگری ثریا ,عزیزی فائزه ,صالح نسرین ,عمرانی میرداود
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