Results 41 to 50 of about 3,461 (195)

Intraspecific Evolution of Human RCCX Copy Number Variation Traced by Haplotypes of the CYP21A2 Gene [PDF]

, 2013
The RCCX region is a complex, multiallelic, tandem copy number variation (CNV). Two complete genes, complement component 4 (C4) and steroid 21-hydroxylase (CYP21A2, formerly CYP21B), reside in its variable region.
Szilágyi, Ágnes, Doleschall, Márton, Prohászka Zoltán, Patócs Attila Balázs, Bánlaki, Zsófia, Patócs, Attila Balázs, Szabo JA, Füst György, Bánlaki Zsófia, Doleschall Márton, Szabó, Julianna Anna, Prohászka, Zoltán, Szilágyi Ágnes, Füst, György   +13 more
core   +1 more source

Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

Indian Journal of Endocrinology and Metabolism, 2014
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.The study included 64 girls diagnosed with premature adrenarche (PA) in childhood and 141 females with clinical hyperandrogenemia manifested in adolescence or ...
Neocleous, Vassos, Shammas, Christos, Phedonos, AlexiaAP, Phylactou, LeonidasA, Skordis, Nicos   +4 more
openaire   +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 ...
Rita Santos Silva, Berta Carvalho, Jorge Pedro, Cíntia Castro-Correia, Davide Carvalho, Filipa Carvalho, Manuel Fontoura   +6 more
doaj   +1 more source

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 Chí Dũng, Thinh Huy Tran, Đức Hinh Nguyễn, Long Hoang Luong, Phuong Thi Le, Minh Hieu Ta, Huong Thi Thanh Ngo, Mai P. Nguyen, Tuan Pham Le-Anh, Dat Nguyen, The‐Hung Bui, Van Thanh Ta, Van Khanh Tran   +12 more
openaire   +2 more sources

Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management

Clinical Endocrinology, EarlyView.
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu, Yue Li, Meng Sun, Yulin Li, Panpan Li, Hui Zou   +5 more
wiley   +1 more source

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency

Orphanet Journal of Rare Diseases
Background Molecular analysis of the CYP21A2 gene is highly important for understanding the aetiology of 21-hydroxylase deficiency (21-OHD). The aim of this study was to use a novel approach named CNVplex, together with the SNaPshot assay and direct ...
Yanjie Xia, Feng Yu, Ying Bai, Lili Jiang, Panlai Shi, Zhengwen Jiang, Xiangdong Kong   +6 more
doaj   +1 more source

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

BMC Medical Genetics, 2018
Background Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2.
Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer, Yufei Shi   +5 more
doaj   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Genetic Correlation and Causal Inference Between Female Fat Distribution and Preeclampsia: An Integrative Genomic Study

The FASEB Journal, Volume 40, Issue 12, 30 June 2026.
We conducted integrative genomic analyses of large‐scale GWAS summary data to explore the shared polygenic architecture and causal link between female fat distribution (WHRadjBMI) and preeclampsia, identifying novel loci and critical vascular–immune pathways with implications for risk prediction.
Man Wang, Li Huang, Danfeng Zhang, Fengmei Yang, Lihua Wu, Bo Gao   +5 more
wiley   +1 more source

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica

Molecular Genetics and Metabolism Reports, 2021
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenotype-genotype correlation has been well described in previous studies.
Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita   +4 more
openaire   +3 more sources