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Article

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.

The Journal of steroid biochemistry and molecular biology - 1 Apr 2020

Guarnotta Valentina, Niceta Marcello, Bono Marianna, Marchese Serena, Fabiano Carmelo, Indelicato Serena, Di Gaudio Francesca, Garofalo Piernicola, Giordano Carla

Abstract excerpt

Non-classical congenital adrenal hyperplasia (NC-CAH) includes a group of genetic disorders due to a broad class of CYP21A2 variants identifying a disease-causing 'C' genotype. The heterozygous carriers of CYP21 mutations are at increased risk of developing clinically evident hyperandrogenism, even though clinical and laboratory characteristics are still underestimated. With the aim of obtaining a more accurate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31805392
DOI: 10.1016/j.jsbmb.2019.105554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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