Results 21 to 30 of about 2,714 (169)

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

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

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

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   +3 more sources

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

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

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

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

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