Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations
Indian Journal of Endocrinology and Metabolism, 2014 Objectives: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess.
Vassos Neocleous +4 more
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JCRPE, 2022 INTRODUCTION: Standard dose synacthen stimulation test (SDSST) is a gold standard screening test for evaluating adrenal gland function. Despite studies using SDSST to identify heterozygosity in CYP21A2, the reliability of the test for this purpose is ...
Seher Polat, Yusuf Kemal Arslan
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High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. [PDF]
PLoS ONE, 2008 The systematic study of the human genome indicates that the inter-individual variability is greater than expected and it is not only related to sequence polymorphisms but also to gene copy number variants (CNVs).
Silvia Parajes +3 more
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Clinical, Cosmetic and Investigational Dermatology, 2021 Ting Yang,1,2 Wen-Juan Wu,1 Li-Ming Tian,3 Deng-Feng Zhang,4 Xiao-Yan Yang,1 Jue Qi,1 Ying Tu,1 Li He1 1Department of Dermatology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, 650023, People’s Republic of China ...
Yang T +7 more
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Data in Brief, 2017 This article presents the dataset regarding spectrum of mutations in 21-Hydroxylase deficient CAH patients as described in “The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort” (R. Khajuria, R. Walia, A.
Ragini Khajuria +3 more
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Analysis of the CYP21A2 gene pathogenic variants in CAH patients from Surgut using next-generation sequencing (NGS) [PDF]
Egyptian Journal of Medical Human GeneticsBackground 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease.
Natalia Osinovskaya +8 more
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Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing. [PDF]
Mol Genet Genomic MedThe overall genotype–phenotype concordance was found to be 73.1% (68/93). The expected concordance with the SW form of the null (n = 12) and A (n = 51) groups is 91.6% and 88.2%, respectively. While the percentage of the expected clinical form of SV in patients in group B (n = 5) was 80%, the concordance for the expected clinical form of NC for group C
Atas N, Karaoglan M, Nacarkahya G.
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Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD [PDF]
Frontiers in GeneticsBackground21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Tian Lan +5 more
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A Case of Salt-Wasting Congenital Adrenal Hyperplasia Caused by a Rare Intronic Variant in the <i>CYP21A2</i> Gene. [PDF]
Int J Mol SciAntysheva Z +14 more
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Endocrine Connections, 2021 Objective: Treatment of classic congenital adrenal hyperplasia (CAH) is necessary to compensate for glucocorticoid/mineralocorticoid deficiencies and to suppress androgen excess.
Heike Hoyer-Kuhn +12 more
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