Molecular study of developmental sex disorders in children
المؤلفون المشاركون
Abu Ilila, Suhayr S.
Abu al-Futuh, Wafa Mustafa M.
Tawfiq, Maha A. M.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 16، العدد 3 (30 سبتمبر/أيلول 2015)، ص ص. 245-256، 12ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2015-09-30
دولة النشر
مصر
عدد الصفحات
12
التخصصات الرئيسية
الموضوعات
الملخص EN
Sex determination and differentiation in humans are processes that involve the interaction of several genes such as SRY, SOX9 genes which are important in the development of the male genital system.
Also NR5A1 gene plays an important role in the development of gonads and the adrenal glands.
Aim of the study include clinical assessment of children with disorders of sex development, molecular analyses for SRY, SOX9 and NR5A1 genes and genetic counseling for the patients and their families.
Subjects and methods: This study included sixteen patients from 1 day to 6 years old attending the Genetics and Endocrinology unit, Pediatric department, Faculty of Medicine, Menoufiya University, Egypt.
All cases were subjected to: detailed history, thorough clinical examination, routine and hormonal investigations, imaging studies, cytogenetic and molecular studies for SRY, SOX9 and NR5A1 genes.
Results: Positive consanguinity between the parents was detected in seven patients (43.75%).
Serum 17 OH progesterone was elevated in five patients (31.25%) and below normal ranges in two patients (12.5%).
Cytogenetic study revealed six patients with normal (46, XX) karyotype, eight patients with normal (46, XY) karyotype, one patient had (45, X) karyotype and another with (45, X/46, XY) karyotype.
Thirteen out of sixteen patients undergone molecular studies, SRY gene was +ve for six patients with normal male (46, XY) undergone and one patient with (45, X) karyotype (translocated SRY).
SRY was ve for five patients with normal female (46, XX) karyotype and one patient with (45, X/46, XY) karyotype (deleted SRY).
All patients were +ve for SOX9 and NR5A1 genes and no deletions detected.
Conclusion: Genetic studies beside clinical and hormonal evaluation will allow us to rapidly reach a diagnosis and to identify a ‘molecular sex’ for each patient.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Abu Ilila, Suhayr S.& Tawfiq, Maha A. M.& Abu al-Futuh, Wafa Mustafa M.. 2015. Molecular study of developmental sex disorders in children. The Egyptian Journal of Medical Human Genetics،Vol. 16, no. 3, pp.245-256.
https://search.emarefa.net/detail/BIM-578137
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Abu Ilila, Suhayr S.…[et al.]. Molecular study of developmental sex disorders in children. The Egyptian Journal of Medical Human Genetics Vol. 16, no. 3 ( 2015), pp.245-256.
https://search.emarefa.net/detail/BIM-578137
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Abu Ilila, Suhayr S.& Tawfiq, Maha A. M.& Abu al-Futuh, Wafa Mustafa M.. Molecular study of developmental sex disorders in children. The Egyptian Journal of Medical Human Genetics. 2015. Vol. 16, no. 3, pp.245-256.
https://search.emarefa.net/detail/BIM-578137
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 256
رقم السجل
BIM-578137
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر