Results 1 to 10 of about 2,661 (128)

21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy [PDF]

Case Reports in Endocrinology
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive genetic condition that results from pathogenic variants in the CYP21A2 gene.
Michelle L. Kluge, Lynn Schema, Katy Schroepfer, Emily K. Thoreson, Kyriakie Sarafoglou, Ross A. Rowsey, Cherisse A. Marcou, Ann M. Moyer, Matthew J. Schultz   +8 more
doaj   +3 more sources

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2

Frontiers in Pharmacology, 2022
CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases.
Mayara J Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha   +2 more
exaly   +3 more sources

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1–3 ins/del variants in CYP21A2 causes non-classical congenital adrenal hyperplasia in a Chinese girl [PDF]

Frontiers in Pediatrics
Congenital adrenal hyperplasia (CAH) is caused by variants in the CYP21A2 gene and subsequently results in 21-hydroxylase deficiency. The non-classic form of CAH (NCCAH) often occurs in late puberty or in young adults due to a mild excess in postnatal ...
Nan Li, Chao Lu, Harvest F. Gu, Harvest F. Gu, Xiaofei An   +4 more
doaj   +2 more sources

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

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.
Yuguo Wang
exaly   +3 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
ObjectiveThe 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)
Pavlos Fanis, Nicos Skordis, Meropi Toumba   +2 more
exaly   +3 more sources

Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province [PDF]

中国当代儿科杂志
ObjectiveTo explore the clinical and genetic characteristics of children with salt-wasting (SW) 21-hydroxylase deficiency (21-OHD) in Henan Province.MethodsClinical characteristics, laboratory results, and genetic findings were retrospectively reviewed ...
YANG Hai-Hua, HUANG Ai, LI Yuan, CHEN Yong-Xing, WEI Hai-Yan   +4 more
doaj   +2 more sources

Investigation of Pharmacogenomic Variants in the CYP (P450) Family in Native American Populations of the Brazilian Amazon. [PDF]

Int J Genomics
The cytochrome P450 (CYP) enzyme superfamily is essential for xenobiotic metabolism, detoxification pathways, and the regulation of cellular homeostasis. Genetic variability in CYP genes, together with environmental factors, contributes substantially to interindividual and interethnic differences in drug metabolism and therapeutic response.
de Freitas LM, Marcellino JCR, de Moraes FCA, Monte N, da Costa ACA, de Cássia Calderaro Coelho R, Aguiar KEC, Dos Santos AMR, Guerreiro JF, Dos Santos ÂR, Dos Santos SEB, Fernandes MR, Dos Santos NPC.   +12 more
europepmc   +2 more sources

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns [PDF]

Genome Medicine
Background Comprehensive genetic characterization and screening for congenital adrenal hyperplasia (CAH) have not yet been achieved at the population level because of the complexity of the CYP21A2 locus.
Desheng Liang, Min Zhu, Qiaowei Liang, Rong Qiang, Lei Yu, Shiyi Xu, Menglin Li, Jieping Song, Yulin Zhou, Xiaoyan He, Yonglan Huang, Hua Jin, Jianqiang Tan, Hui Liu, Aihua Xia, Yingdi Liu, Peisen Liu, Zhuo Li, Ruifang Wang, Dongjuan Wang, Ruixue Zhang, Qian Pu, Jinfu Zhou, Runhong Xu, Xudong Wang, Minyi Tan, Dayu Chen, Chaoyan Wu, Di Cui, Aiping Mao, Wenhao Zhou, Wenjuan Qiu, Lingqian Wu   +32 more
doaj   +2 more sources

Long-Read Sequencing of CAH and ADPKD Provides Novel Insights Into the Genetic Diagnosis of Male Infertility. [PDF]

Reprod Med Biol
ABSTRACT Purpose This study aimed to evaluate the utility of long‐read sequencing (LRS) in identifying variants of congenital adrenal hyperplasia (CAH) and autosomal dominant polycystic kidney disease (ADPKD) in infertile men, which may help further clarify genetic diagnosis and support genetic counseling and reproductive management. Methods A total of
Li X, Liu C, Liu W, Wang X, Liu J, Cai F, Lu S.   +6 more
europepmc   +2 more sources

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry

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, Angela Huebner, Anette Richter-Unruh, Markus Bettendorf, Tilman Rohrer, Klaus Kapelari, Stefan Riedl, Klaus Mohnike, Helmuth-Günther Dörr, Friedrich-Wilhelm Roehl, Katharina Fink, Reinhard W Holl, Joachim Woelfle   +12 more
doaj   +1 more source