Results 1 to 10 of about 2,383,407 (230)
21-Hydroxylase deficiency in Brazil [PDF]
Brazilian Journal of Medical and Biological Research, 2000 We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series
T.A.S.S. Bachega +7 more
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Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation [PDF]
International Journal of Neonatal Screening, 2023 There are mixed reports on the inclusion and use of 21 deoxycortisol (21DF) as the primary decision marker for classical 21-hydroxylase deficiency.
Ronda F. Greaves +7 more
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Definitions, 2020 Cortisol synthesis in the zona fasciculata of the adrenal cortex requires five enzymatic steps: the cholesterol side chain is cleaved to yield pregnenolone, which is dehydrogenated at the 3β position to progesterone, which is successively hydroxylated at
P. White
semanticscholar +3 more sources
Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency [PDF]
Frontiers in EndocrinologyIn adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway.
Beata Woźniak +12 more
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Genotype-phenotype correlation in patients with 21-hydroxylase deficiency [PDF]
Frontiers in Endocrinology, 2023 Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang +13 more
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Monitoring treatment in pediatric patients with 21-hydroxylase deficiency [PDF]
Frontiers in Endocrinology, 2023 21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga +2 more
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Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately
Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo
doaj +2 more sources
Neonatal mass screening for 21-hydroxylase deficiency
Clinical Pediatric Endocrinology, 2016 . Congenital adrenal hyperplasia(CAH)due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder. Its incidence is 1 in 10,000 to 20,000 worldwide. This disease shows phenotypic differences, and it is divided into three forms i.
T. Tajima, M. Fukushi
semanticscholar +5 more sources
Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach [PDF]
Frontiers in Endocrinology, 2022 Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba +3 more
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Alʹmanah Kliničeskoj Mediciny, 2022 Background: Prolonged episodes of uncontrolled congenital adrenal hyperplasia (CAH) have been shown to result in the occurrence of secondary adrenal neoplasms.
Zulfiya R. Shafigullina +7 more
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