{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["66(2)"],"submitter":["Silva RS"],"pubmed_abstract":["<h4>Objective</h4><i>CYP21A2</i> mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier <i>status</i> and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone <i>CYP21A2</i> molecular analysis.<h4>Methods</h4>Retrospectively, we have analyzed the clinical records of 131 females (32 girls aged 3-9 and 99 adolescents and premenopausal women aged 13-49) who underwent complete <i>CYP21A2</i> molecular analysis due to suspicion of NC-CAH. We divided included part"],"journal":["Archives of endocrinology and metabolism"],"pagination":["168-175"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9832901"],"repository":["biostudies-literature"],"pubmed_title":["Differences in hormonal levels between heterozygous <i>CYP21A2</i> pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia."],"pmcid":["PMC9832901"],"pubmed_authors":["Carvalho B","Pedro J","Fontoura M","Silva RS","Castro-Correia C","Carvalho D","Carvalho F"],"additional_accession":[]},"is_claimable":false,"name":"Differences in hormonal levels between heterozygous <i>CYP21A2</i> pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.","description":"<h4>Objective</h4><i>CYP21A2</i> mutation heterozygote carriers seem to have an increased risk of hyperandrogenism. However, the clinical relevance of the heterozygote carrier <i>status</i> and the reliability of hormonal testing in discriminating a carrier from a non-carrier are puzzling questions. We aimed to characterize a population of Portuguese females suspected of having non-classic congenital adrenal hyperplasia (NC-CAH) due to clinical and biochemical criteria and who have undergone <i>CYP21A2</i> molecular analysis.<h4>Methods</h4>Retrospectively, we have analyzed the clinical records of 131 females (32 girls aged 3-9 and 99 adolescents and premenopausal women aged 13-49) who underwent complete <i>CYP21A2</i> molecular analysis due to suspicion of NC-CAH. We divided included part","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-04T14:16:40.667Z","creation":"2025-02-19T02:22:57.772Z"},"accession":"S-EPMC9832901","cross_references":{"pubmed":["35289513"],"doi":["10.20945/2359-3997000000437"]}}