Results 11 to 20 of about 4,066 (184)

A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene. [PDF]

Heliyon
Molecular genetic analysis of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene is challenging owing to the highly homologous with its pseudogene. A reliable approach for the large-scale population screening of CYP21A2 is required.
Tan J, Jin S, Huang L, Shao B, Wang Y, Wang Y, Zhang J, Su M, Tan J, Cheng Q, Xu Z.   +10 more
europepmc   +4 more sources

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera

Molecular Genetics & Genomic Medicine, 2023
Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production.
Qizong Lao, Deepika D Burkardt, Sarah Kollender, F. Faucz, D. Merke   +4 more
semanticscholar   +2 more sources

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess.
J. Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +5 more
semanticscholar   +2 more sources

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

Frontiers in Endocrinology, 2023
Objective The study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single CYP21A2 gene (bimodular RCCX haplotype) and to discriminate between a non-causing congenital adrenal hyperplasia (CAH ...
P. Fanis, N. Skordis, M. Toumba, M. Picolos, G. Tanteles, V. Neocleous, L. Phylactou   +6 more
semanticscholar   +3 more sources

Identification of a Homozygous Variant in the <i>CYP21A2</i> Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA. [PDF]

Genes (Basel)
Background/Objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the CYP21A2 gene associated with 21-hydroxylase deficiency and increased levels of adrenal androgens.
Petrillo N, Marcella S, Sirica R, Ianniello M, Ruggiero R, Mori A, Castiello R, Ramiro C, D'Angelo R, Pennacchio G, Barletta E, Passaro R, Fico A, Savarese G.   +13 more
europepmc   +2 more sources

Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report. [PDF]

AJP Rep
Background Congenital adrenal hyperplasia (CAH), predominantly caused by 21-hydroxylase deficiency (21-OHD), arises from mutations in CYP21A2 . This frequently occurs via gene conversion events between CYP21A2 and its pseudogene, leading to impaired 21 ...
Yin Y, Huang X, Shi Y, Huang C, Yu J, Liu Q.   +5 more
europepmc   +2 more sources

CYP21A2 Intron 2 Genetic Variants Might Be Associated with the Clinical Characteristics of Women with PCOS

Biomedicines
Aims: Pathogenic variants in the CYP21A2 gene are related to the classic and non-classic forms of congenital adrenal hyperplasia (CAH). However, the role of CAH carrier status in the clinical presentation of polycystic ovarian syndrome (PCOS) is still ...
R. Robeva, Silvia Andonova, T. Todorov, Aylin Feyzullova, A. Elenkova, G. Kirilov, Alexey Savov, S. Zacharieva, Albena Todorova   +8 more
semanticscholar   +3 more sources

PGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report. [PDF]

Int J Fertil Steril
The hyperandrogenic non-classic congenital adrenal hyperplasia (NCAH) is an autosomal recessive disorder that can lead to a decrease in reproductive function in women due to alterations in hormone levels.
Cavagnoli M, Augusta Tamm M, White Loureiro Souza V, Cerveró A, Mikulski Ali T, Cuzzi J, Riboldi M, Del Collado M.   +7 more
europepmc   +2 more sources

17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses

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
openalex   +3 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 ...
R. S. Silva, B. Carvalho, J. Pedro, Cíntia Castro-Correia, D. Carvalho, F. Carvalho, M. Fontoura   +6 more
semanticscholar   +3 more sources