Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia.Design and methodsData were obtained from 104...

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Bibliographic Details
Main Authors: Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Primoz Kotnik, Tadej Battelino, Zuzana Pribilincova, Urh Groselj
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Endocrinology
Subjects:
congenital adrenal hyperplasia
CAH
CYP21A2
genotype-phenotype
21 hydroxylase deficiency
21-OH deficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1134133/full

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https://www.frontiersin.org/articles/10.3389/fendo.2023.1134133/full

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