Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia

Volume: 198, Pages: 105554 - 105554
Published: Apr 1, 2020
Abstract
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 delineation of the phenotype of...
Paper Details
Title
Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia
Published Date
Apr 1, 2020
Volume
198
Pages
105554 - 105554
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