نتایج جستجو برای: hydroxylase deficiency
تعداد نتایج: 152075 فیلتر نتایج به سال:
Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...
In this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in Imam Reza Hospital in Mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patient...
We present a report on two sisters who have 17 ƒ¿-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17 ƒ¿-hydroxylase deficiency. In contrast to the classical biochemical findings in 17 a-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new var...
OBJECTIVE To determine the frequency of 21-hydroxylase deficiency in The Bahamas and the spectrum of this disorder METHODS Patients referred for evaluation of virilization, precocious puberty, ambiguous genitalia and salt wasting had blood taken for 17-hydroxyprogesterone (17-OH progesterone) which was measured by Enzyme-Linked Immunosorbent Assay (ELISA). RESULTS Nine patients had elevated...
in this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in imam reza hospital in mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patients (10...
results out of 617 patients, 79.6% had 21-hydroxylase deficiency (21-ohd). in 21-ohd group 94.5% had classical type and 5.5% were non-classic. among the classic type 78% had salt-wasting form (sw) and 22% simple virilizing (sv). both 21-ohd-sv and sw were diagnosed more frequently in females. frequency of other types were as follow: 11-hydroxylase deficiency (11-ohd), 13.3%; 3ß-hydroxysteroid d...
Congenital adrenal hyperplasia because of 21-hydroxylase deficiency is closely linked to the HLA system. The lod scores in 14 informative families are presented. Apart from linkage, the 21-hydroxylase deficiency is associated with an increase of BW47 antigen and lack of B8 antigen in patients. A family with a possible recombination between the 21-hydroxylase deficiency and the HLA complex was f...
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