000			03170cam a2200325 a 4500
003			EG-GiCUC
008			191130s2019 ua d f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aPh.D
099			_aCai01.11.07.Ph.D.2019.He.I
100	0		_aHeba Yehia Ahmed Asfour
245	1	0	_aIdentification of patients with 11Ý-hydroxylase deficiency among a group of patients of congenital adrenal hyperplasia with alleged 21-hydroxylase deficiency / _cHeba Yehia Ahmed Asfour ; Supervised Marianne Fathy Morgan , Yasmine Taha Elshiwy , Heba Nabil Elbaz
246	1	5	_aتحديد المرضى المصابين بنقص انزيم 11 يبتا هيدروكسيلاز فى مجموعة من المرضى مصابين بمتلازمة تضخم الغدة الكظرية و نقص انزيم 21 هيدروكسيلاز
260			_aCairo : _bHeba Yehia Ahmed Asfour , _c2019
300			_a96 P. : _bcharts , facsimiles ; _c25cm
502			_aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology
520			_aBackground: Elevation of 17 hydroxyprogesterone (17OHP) is an important marker in diagnosis of congenital adrenal hyperplasia (CAH) due to deficiency of 21 hydroxylase enzyme, but its is also elevated in 5-8% of patients due to deficiency of 11 beta hydroxylase enzyme.11 deoxycortisol is elevated in 11 beta hydroxylase deficient patients but it is not routinely done so unfortunately accurate diagnosis may be missed.The aim of this study was to measure 11 deoxycortisol to the patients with elevated 17OHP, once with radioimmunoassay (RIA) and then repeat it with LC-MS/MS and compare between both methods. Also, another steroid was measured; 21 deoxycortisol using LC-MS/MS to detect its ability to discriminate between both conditions and if it is more beneficial to measure multiple steroids simultaneously. Patients and Methods: Samples from 144 patients were measured for 11 deoxycortisol using RIA.Trials were done to measure 11 deoxycortisol, 17OHP and 21 deoxycortisol using HPLC but failed. Fifty-two samples were randomly selected and measured for the previous 3 parameters using LC-MS/MS. Results: 11 deoxycortisol measured by LC-MS/MS identified patients with 11 beta hydroxylase deficiency among those with 21 hydroxylase deficiency (p=0.002). Moreover, it was highly predictive of 11 beta hydroxylase deficiency at a cutoff {u2265} 11 ng/ml with 100 % sensitivity and 92.3% specificity. Simultaneous measurement of 21 deoxycortisol and 11 deoxycortisol and their enrollment in an equation using logistic regression analysis yielded an overall predictive accuracy 96.8% for diagnosis of 11 beta hydroxylase deficiency and 21 deoxycortisol deficiency
530			_aIssued also as CD
653		4	_a11 Deoxycortisol
653		4	_a21Deoxycortisol
653		4	_aCongenital adrenal hyperplase
700	0		_aHeba Nabil Elbaz , _eSupervisor
700	0		_aMarianne Fathy Morgan , _eSupervisor
700	0		_aYasmine Taha Elshiwy , _eSupervisor
905			_aNazla _eRevisor
905			_aShimaa _eCataloger
942			_2ddc _cTH
999			_c75545 _d75545