Results 41 to 50 of about 2,714 (169)

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Indian Pediatrics Case Reports, 2022
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma   +3 more
doaj   +1 more source

p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

International Journal of Endocrinology, 2020
Premature pubarche (PP) is the appearance of sexual hair in children before puberty. The PP phenotype may attribute to nonclassic congenital adrenal hyperplasia (NC-CAH).
Mahdieh Soveizi, Nejat Mahdieh, Aria Setoodeh, Fatemeh Sayarifard, Farzaneh Abbasi, Himangshu S. Bose, Bahareh Rabbani, Ali Rabbani   +7 more
doaj   +1 more source

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

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

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

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.
Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +5 more
doaj   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 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

Comparison of long-read sequencing and MLPA combined with long-PCR sequencing of CYP21A2 mutations in patients with 21-OHD

Frontiers in Genetics
Background21-Hydroxylase deficiency (21-OHD) is caused by mutations in the CYP21A2 gene. Due to the complex structure and the high genetic heterogeneity of the CYP21A2 gene, genetic testing for 21-OHD is currently facing challenges.
Tian Lan, Jin Wang, Kaibi Chen, Jianru Zhang, Xiaohong Chen, Hui Yao   +5 more
doaj   +1 more source

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

Clinical Endocrinology, Volume 105, Issue 3, Page 271-284, September 2026.
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