biostudies-literatureUnknown66(2)Silva RS<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 partArchives of endocrinology and metabolism168-175https://www.ebi.ac.uk/biostudies/studies/S-EPMC9832901biostudies-literatureDifferences in hormonal levels between heterozygous <i>CYP21A2</i> pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.PMC9832901Carvalho BPedro JFontoura MSilva RSCastro-Correia CCarvalho DCarvalho FfalseDifferences in hormonal levels between heterozygous <i>CYP21A2</i> pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.<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 part2022-01-01T00:00:00Z2022 Apr2025-04-04T14:16:40.667Z2025-02-19T02:22:57.772ZS-EPMC98329013528951310.20945/2359-3997000000437