نتایج جستجو برای: hydroxylase deficiency
تعداد نتایج: 152075 فیلتر نتایج به سال:
Non-classical congenital adrenal hyperplasia by 21 hydroxylase deficiency is an autosomal recessive disease whose usual presentation a late virilization. In some African countries like Morocco, there are cultural barriers to gynecological examination in girls, women consult until for sexual problem as the case of our patient who consulted clitoris hypertrophy at age 22 years and hormonal assess...
Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders, which are due to defects in single enzymes involved in adrenal steroidogenesis. The biochemical and clinical phenotype depends on the specific enzymatic defect. In 21hydroxylase and 11β-hydroxylase deficiency only adrenal steroidogenesis is affected, whereas a defect in 3β-hydroxysteroid dehyd...
Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia a...
Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to measure 6 metabolic compounds of the adrenocorticosteroid pathway simultaneously on residual specimens from patients who had previously been previously diagnosed, on the basis of immunoassays, as having congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, 21-hydroxylase deficiency, or Addison disease (adrenal...
Ambiguous genitalia means difference between gonads morphology and external genitalia. Gender assignment and surgical correction must be done as early as possible to assure unambiguous bonding between the parents and the child. The purpose of this study was to evaluate Ambiguous genitalia in a referral children surgical center.Materials and Methods: We retrospectively reviewed records of 200 pa...
Tyrosine hydroxylase catalyses the hydroxylation of L-tyrosine to l-DOPA, the rate-limiting step in the synthesis of catecholamines. Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex...
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