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العنوان
Turner Syndrome Genotype and phenotype correlation /
المؤلف
Thabet, Shenouda Gamil.
هيئة الاعداد
باحث / شنودة جميل ثابت
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مشرف / مني عطية هنا
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مشرف / داليا صابر مرجان
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مشرف / احمد سعد عبد الحليم
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الموضوع
Turner’s syndrome. Turner’s syndrome Patients Biography. Turner’s syndrome Hormone therapy Congresses.
تاريخ النشر
2016.
عدد الصفحات
95 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
جراحة
الناشر
تاريخ الإجازة
21/7/2016
مكان الإجازة
جامعة بني سويف - كلية الطب - الاطفال
الفهرس
Only 14 pages are availabe for public view

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Abstract

Turner syndrome (TS) is the most common sex-chromosome abnormality; it affects approximately 1 in every 2500 live born female newborns worldwide. It is a disorder of growth and development that is almost always associated with short stature and primary amenorrhea.
The diagnosis of Turner syndrome is sometimes made at birth in the patient with classic physical features such as webbed neck and congenital lymphedema. Other patients are diagnosed later, when they present with either growth failure in childhood, failure to enter or complete puberty, or early ovarian failure.
Turner syndrome must be suspected in any girl with short stature. Adult height is 20 cm below the mean female population if not treated with growth hormone.
Recombinant human growth hormone therapy should be started as soon as the height of a girl with Turner syndrome falls below the fifth percentile for age( normal female charts), which usually occurs between two and five years of age. Height can be normalized in most patients using GH doses higher than standard doses used for GH deficiency.
Introduction of low-dose estrogen therapy at around age 12 years of age can permit a normal timing and pace of puberty without compromising adult height. To optimize breast development, delaying progestin therapy for approximately two years is recommended.
Girls with Turner syndrome whose karyotype includes a Y chromosome (such as 45, X / 46, XY mosaicism) are at increased risk for gonadoblastoma and require gonadectomy.
In our study we found that girls with Turner syndrome are more likely than girls without Turner syndrome to develop abdominal obesity,
Summary
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liver diseases , all may improve with growth hormone therapy. We also found that girls with Turner syndrome are at increased risk for autoimmune endocrinopathies, most importantly, hypothyroidism. so throughout correlation between genotype and phenotype in all patients with turner syndrome we can reach early diagnosis for diseases can affect them and do early manegement,and traetment for suspected patients.