Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2195
Abstract: 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. There is a continuum of phenotypes which generally correlate with… read more here.
Keywords: chimera; cyp21a2; cyp21a1p cyp21a2; cah ... See more keywords
The prevalence of heterozygous CYP21A2 deficiency in patients with idiopathic acne, hirsutism, or both
Sign Up to like & getrecommendations! Published in 2019 at "Endocrine"
DOI: 10.1007/s12020-019-02104-7
Abstract: The purpose of this study is to assess the prevalence of heterozygous CYP21A2 mutation and analyze its correlation with clinical manifestation in patients with acne, hirsutism, or both. Clinical evaluation, hormone testing, and genetic analysis… read more here.
Keywords: cyp21a2; heterozygous cyp21a2; prevalence heterozygous; mutation ... See more keywords
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14035
Abstract: To the Editor Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an inherited autosomal recessive disorder caused by alterations in the CYP21A2 gene. CAH shows a strong genotype–phenotype correlation and, since most pathological… read more here.
Keywords: cyp21a2; variant; cah; site ... See more keywords
cyp21a2 knockout tadpoles survive metamorphosis despite low corticosterone.
Sign Up to like & getrecommendations! Published in 2022 at "Endocrinology"
DOI: 10.1210/endocr/bqac182
Abstract: Corticosteroids are vital for organ maturation such that reduced corticosteroid signaling during post-embryonic development causes death in terrestrial vertebrates. Indeed, death occurs at metamorphosis in frogs lacking proopiomelanocortin (pomc) or the glucocorticoid receptor (GR; nr3c1).… read more here.
Keywords: metamorphosis; corticosteroid signaling; cyp21a2; knockout tadpoles ... See more keywords
Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2019-0575
Abstract: Abstract Objectives Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by defects in the CYP21A2 gene. We aimed to determine the prevalence of the most commonly reported… read more here.
Keywords: cyp21a2; point mutations; adrenal hyperplasia; point ... See more keywords
Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.
Sign Up to like & getrecommendations! Published in 2022 at "Archives of endocrinology and metabolism"
DOI: 10.20945/2359-3997000000437
Abstract: 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-carrier… read more here.
Keywords: cyp21a2; non carriers; pathogenic variant; non classic ... See more keywords