Congenital adrenal hyperplasia due to 11 Ý hydroxylase deficiency : A clinical and diagnostic approach /
Sara Abdulla Saleh Farag
Congenital adrenal hyperplasia due to 11 Ý hydroxylase deficiency : A clinical and diagnostic approach / تضخم الغده الكظريه الخلقى بسبب نقص 11 هايدروكسيلاز: الجوانب الاكلينيكية و التشخيصية Sara Abdulla Saleh Farag ; Supervised Mona Hassen Hafez , Maha Mohsen Mohamed , Noha Musa Azab - Cairo : Sara Abdulla Saleh Farag , 2014 - 108 P. : charts ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Congenital adrenal hyperplasia is one of the most common inherited endocrinal disorders. Steroid 11Ý hydroxylase deficiency is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100,000 200,000 in overall population. To study the percentage of CAH due to 11ÝHydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings suggestive of Congenital adrenal hyperplasia.The study was cross sectional, including 20 patients (16 females and 4 males) with CAH, divided into 2 groups (11Ý hydroxylase deficiency and 21 hydroxylase deficiency) according to 11 deoxycortisol / cortisol ratio. Both groups were studied regarding history (demographic data, family history, age at presentation, different presentations), examination (BP measurement, auxology, genitalia, pubertal staging) and investigations including laboratory tests (adrenal precursors, PRA, Na, K) and imaging pelvic U / S
11 Ý Hydroxylase Congenital adrenal hyperplasia Pediatrics
Congenital adrenal hyperplasia due to 11 Ý hydroxylase deficiency : A clinical and diagnostic approach / تضخم الغده الكظريه الخلقى بسبب نقص 11 هايدروكسيلاز: الجوانب الاكلينيكية و التشخيصية Sara Abdulla Saleh Farag ; Supervised Mona Hassen Hafez , Maha Mohsen Mohamed , Noha Musa Azab - Cairo : Sara Abdulla Saleh Farag , 2014 - 108 P. : charts ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Congenital adrenal hyperplasia is one of the most common inherited endocrinal disorders. Steroid 11Ý hydroxylase deficiency is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100,000 200,000 in overall population. To study the percentage of CAH due to 11ÝHydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings suggestive of Congenital adrenal hyperplasia.The study was cross sectional, including 20 patients (16 females and 4 males) with CAH, divided into 2 groups (11Ý hydroxylase deficiency and 21 hydroxylase deficiency) according to 11 deoxycortisol / cortisol ratio. Both groups were studied regarding history (demographic data, family history, age at presentation, different presentations), examination (BP measurement, auxology, genitalia, pubertal staging) and investigations including laboratory tests (adrenal precursors, PRA, Na, K) and imaging pelvic U / S
11 Ý Hydroxylase Congenital adrenal hyperplasia Pediatrics