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beyond monosomy: a mosaic turner syndrome presenting with coarctation of the aorta with left persistent superior vena cava and primary ovarian failure
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نویسنده
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shukla shivani ,garg nancy ,suran apoorva ,khare jaideep
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منبع
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case reports in clinical practice - 2025 - دوره : 10 - شماره : 6 - صفحه:280 -284
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چکیده
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Turner syndrome is a rare but not uncommon genetic syndrome due to partial or complete loss of x-chromosome in females. various chromosome anomalies identified are 45x0, isochromosome xq, ring x, deletion xp, or an abnormal y chromosome, most common being 45x0.clinical features depends on the type of chromosome anomaly present while generally include short stature, primary amenorrhea, hypogonadism.hereby, we report a case of 18 year old female with mosaic turner syndrome who presented with clinical finding of short stature with primary amenorrhea with coarctation of aorta. patient was managed with multi-disciplinary approach that include growth hormone replacement, puberty induction and planning for ductal stenting.
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کلیدواژه
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mosaic turner syndrome ,coarctation of the aorta ,primary amenorrhea ,growth hormone ,puberty induction
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آدرس
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people's college of medical sciences, department of endocrinology, india, people's college of medical sciences, department of endocrinology, india, people's college of medical sciences, department of endocrinology, india, people's college of medical sciences, department of endocrinology, india
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پست الکترونیکی
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drjaideepkhare919@gmail.com
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Authors
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