Results 11 to 20 of about 2,714 (169)
21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy [PDF]
Case Reports in EndocrinologyCongenital 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 +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.
Zaha A +2 more
exaly +5 more sources
Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia [PDF]
International Journal of Endocrinology, 2017 Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and ...
Vassos Neocleous +10 more
doaj +3 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production.
Qizong Lao +4 more
doaj +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 PediatricsCongenital 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 +4 more
doaj +2 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 +4 more
doaj +2 more sources
HeliyonMolecular 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.
Binbin Shao
exaly +3 more sources
CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
Hormone and Metabolic Research, 2013 The question of the contribution of CYP21A2 heterozygosity to the development of polycystic ovary syndrome (PCOS) has repeatedly been raised in the literature. The available data, however, do not offer a satisfactory answer. The discrepancy must be attributed, primarily, to the small number of subjects in the various studies, the type of selected ...
D Panidis, G Chrousos
exaly +4 more sources
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)
Nicos Skordis +2 more
exaly +3 more sources
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant [PDF]
International Journal of Molecular Sciences, 2020 Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition. We present a detailed investigation of the molecular and functional characteristics of a novel pathogenic variant in this gene.
Rachel Kolodny, , Christa E Fluck
exaly +4 more sources