Results 1 to 10 of about 4,947 (206)

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, Mayara J. Prado, Mayara J. Prado, Mayara J. Prado, Rodrigo Ligabue-Braun, Arnaldo Zaha, Arnaldo Zaha, Maria Lucia Rosa Rossetti, Maria Lucia Rosa Rossetti, Amit V. Pandey, Amit V. Pandey   +10 more
doaj   +4 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

Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing. [PDF]

Mol Genet Genomic Med
The 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.
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

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants

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
doaj   +1 more source

Caracterización molecular de la nueva entidad clínica relacionada con la hiperplasia suprarrenal congénita, síndrome CAH-X en población española

Advances in Laboratory Medicine, 2023
La recombinación entre CYP21A2-TNXB y sus respectivos pseudogenes (CYP21A1P-TNXA) da lugar a quimeras responsables del síndrome CAH-X (SCAH-X). Los pacientes con este síndrome presentan manifestaciones clínicas de hiperplasia suprarrenal congénita (HSC ...
Martínez Figueras Laura, Muñoz Pacheco Rafael, García González Dolores, Arriba Domènech María, Ezquieta Zubicaray Begoña   +4 more
doaj   +1 more source

Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population

Advances in Laboratory Medicine, 2023
The chimeras causing the CAH-X syndrome (SCAH-X) result from recombination between CYP21A2-TNXB and their respective pseudogenes (CYP21A1P-TNXA). The clinical manifestations of this syndrome include congenital adrenal hyperplasia (CAH) and Ehlers–Danlos ...
Figueras Laura Martínez, Pacheco Rafael Muñoz, González Dolores García, Domènech María Arriba, Zubicaray Begoña Ezquieta   +4 more
doaj   +1 more source

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
doaj   +1 more source

A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?

JCRPE, 2022
INTRODUCTION: Objective: Since there is no gold standard laboratory variable for adjustment of treatment in congenital adrenal hyperplasia (CAH), the aim was to assess the use of a 4-hour profile of serum 17-hydroxyprogesterone (17-OHP) to determine the ...
Özge Besci, İbrahim Mert Erbaş, Tuncay Küme, Kübra Yüksek Acinikli, Ayhan Abacı, Ece Böber, Korcan Demir   +6 more
doaj   +1 more source

Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia

MethodsX, 2022
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contribute ...
Lavanya Ravichandran, Deny Varghese, Parthiban R, Asha H. S, Sophy Korula, Nihal Thomas, Aaron Chapla   +6 more
doaj   +1 more source