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
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Journal of the Formosan Medical Association, 2010 Data about the clinical manifestations of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (21-OHD) are lacking in Taiwan. Therefore, this study analyzed the clinical features of 21-OHD in Taiwanese children to improve the diagnosis of ...
Cheng-Ting Lee +4 more
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Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
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
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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
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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 PurposeThe purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype.MethodsThis was a retrospective study of the ...
Yangho Yoo +6 more
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POR polymorphisms are associated with 21 hydroxylase deficiency [PDF]
, 2021 Purpose: Genotype–phenotype correlation in congenital 21 hydroxylase deficiency is strong but by no means absolute. Indeed, clinical and hormonal features may vary among patients carrying similar CYP21A2 mutations, suggesting that modifier genes may ...
Pecori Giraldi F. +7 more
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Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
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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JCRPE, 2021 Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), usually due to biallelic variants in CYP21A2. Classical 21-hydroxylase deficiency is characterised by virilisation of the external genitalia in females ...
Tuğba Kontbay, İhsan Turan
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Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
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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Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]
, 2010 Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
W. Bonfig +3 more
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