نتایج جستجو برای: hydroxylase deficiency

تعداد نتایج: 152075  

2008

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...

R VAKILI,

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...

2010
NOBUYUKI TAKASU

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...

Journal: :The West Indian medical journal 2006
S Peter G McDigean P Sandiford T Smith

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...

Journal: :medical journal of islamic republic of iran 0
r vakili from the pediatric endocrinology ward, imam reza hospital, mashhad university of medical sciences,mashhad, i.r. iran.

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...

Journal: :journal of comprehensive pediatrics 0
maryam razzaghy azar inborn error of metabolism, endocrinology and metabolism research center, tehran university of medical sciences, tehran, ir iran; department of pediatrics, h. aliasghar hospital, tehran university of medical sciences, tehran, ir iran; corresponding author: maryam razzaghy azar, inborn error of metabolism, endocrinology and metabolism research center, tehran university of medical sciences, tehran, ir iran. tel.: +98-21 66942903, fax: +98-21 66421054, e-mail:سازمان های دیگر: inborn error of metabolism, endocrinology and metabolism research center mona nourbakhsh department of pediatrics, h. aliasghar hospital, tehran university of medical sciences, tehran, ir iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) mitra nourbakhsh department of biochemistry, school of medicine, tehran university of medical sciences, tehran, ir iranسازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences)

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...

Journal: :Orphanet Journal of Rare Diseases 2006

Journal: :Vietnam Journal of Biotechnology 2018

Journal: :Journal of the Formosan Medical Association 2006

Journal: :Journal of medical genetics 1980
P T Klouda R Harris D A Price

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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