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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Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency [PDF]
JCRPEAlthough the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta ...
Mehmet İsakoca +2 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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Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency [PDF]
Clinics, 2011 INTRODUCTION: 21-hydroxylase deficiency is an autosomal recessive disorder that causes glucocorticoid deficiency and increased androgen production.
Ricardo P. P. Moreira +6 more
doaj +7 more sources
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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Novel deletion alleles carrying
BMC Medical Genetics, 2010 Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil +10 more
doaj +4 more sources
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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Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency [PDF]
Case Reports in Medicine, 2009 We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was ...
Ingrid Nermoen +6 more
doaj +4 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
doaj +2 more sources
Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review) [PDF]
Ожирение и метаболизм, 2019 Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ...
Boris M. Shifman +4 more
doaj +3 more sources