Results 31 to 40 of about 6,020 (257)

Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia [PDF]

Journal of Clinical Medicine, 2021
The most common form of congenital adrenal hyperplasia (CAH) results from a deficiency of the 21-hydroxylase enzyme (21-OHD), presenting with a broad spectrum of clinical phenotypes according to the CYP21A2 gene mutations. Of the 59 patients with suspected CAH, 62.7% presented a positive genetic result.
Madalina Nicoleta Nan, Rosa Roig, Susana E. Martínez, José Rives, Eulàlia Urgell, Juan José Espinós, Mireia Tirado, Gemma Carreras‐Badosa, Anna Aulinas, Susan M. Webb, Rosa Corcoy, Francisco Blanco‐Vaca, Mireia Tondo   +12 more
openalex   +6 more sources

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundCongenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype‐phenotype relationship.MethodsA large cohort of 212 Vietnamese ...
Vũ Dũng, Thinh Huy Tran, Duc Hoang Nguyen, Long Hoang Luong, Phuong Thi Le, Hieu Minh Ta, Huong T. T. Ngo, Mai P. Nguyen, Tuan Pham Le-Anh, Dat Nguyen, The‐Hung Bui, Van Thanh Ta, Văn Khanh Trần   +12 more
openalex   +4 more sources

9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH [PDF]

J Endocr Soc
Disclosure: A. Matveeva: None. Y. Xu: None. V. Tardy-Guidollet: None. A.V. Pandey: None. Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive genetic disorders affecting the production of glucocorticoids ...
Anna Matveeva, Yingtong Xu, V. Tardy-Guidollet, Amit V Pandey   +3 more
europepmc   +2 more sources

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia

Archives of Endocrinology and Metabolism, 2022
Objective: CYP21A2 mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier status and the reliability of hormonal testing in discriminating a carrier from a non ...
Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura   +6 more
doaj   +2 more sources

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, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi   +3 more
doaj   +6 more sources

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

Indian Journal of Endocrinology and Metabolism, 2012
Context: Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene.
Eunice Marumudi, Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini   +5 more
doaj   +4 more sources

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, Christos Shammas, Alexia AP Phedonos, Leonidas A Phylactou, Nicos Skordis   +4 more
doaj   +4 more sources

Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia

International Journal of Applied and Basic Medical Research
A male patient in his late twenties presented with ambiguous genitalia to our tertiary specialist unit with complaints of short stature and inadequate copulation.
K. C. Pradheep Kumar, Suranjana Banik, Praisy Joy, Sanjukta Sahoo   +3 more
openalex   +3 more sources

Genetics of 21-OH Deficiency and Genotype–Phenotype Correlation: Experience of the Hellenic National Referral Center [PDF]

Current Issues in Molecular Biology
21-hydroxylase deficiency (21-OHD) represents the most common form of congenital adrenal hyperplasia (CAH) due to CYP21A2 gene pathogenic variants. Τhe aim of this study was the identification of CYP21A2 variants in 500 subjects of Greek origin with a ...
Irene Fylaktou, Anny Mertzanian, Ioanna Farakla, Alexandros Gryparis, Ioannis Anargyros Vasilakis, Maria Binou, Evangelia Charmandari, Christina Kanaka-Gantenbein, Amalia Sertedaki   +8 more
doaj   +2 more sources

Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Detected by Long-Read Sequencing and Phenotypes Correlation

Journal of Clinical Endocrinology and Metabolism
CONTEXT 21-Hydroxylase deficiency (21-OHD) is caused by pathogenic variants in CYP21A2. High homology between CYP21A2 and its pseudogene CYP21A1P causes mismatches, leading to deletions and CYP21A1P/CYP21A2 chimeras.
Xiaoxia Zhang, Yinjie Gao, Lin Lü, Yaqing Cao, Wei Zhang, Xueyan Wu, Anli Tong, Shi Chen, Xi Wang, Jiangfeng Mao, Min Nie   +10 more
openalex   +2 more sources