Associated Papers
Assisted Reproduction Technology Treatment Outcomes in Female Carriers of 21-Hydroxylase Deficiency.
Arcaz AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) in adult males: Clinical presentation, hormone function and the detection of adrenal and testicular adrenal rest tumors (TARTs).
San Martín P et al.
Endocrinologia, Diabetes Y Nutricion, 2021
Serum Steroid Profiling by Liquid Chromatography-Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report.
Cicalini I et al.
Metabolites, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Elmougy F et al.
Annals of the New York Academy of Sciences, 2018
Two Siblings with the Same Severe Form of 21-Hydroxylase Deficiency But Different Growth and Menstrual Cycle Patterns.
Lang-Muritano M et al.
Frontiers in Pediatrics, 2017
Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.
de Paula Michelatto D et al.
International Journal of Endocrinology, 2016
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia.
Al-Obaidi RG et al.
Enzyme Research, 2016
Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
Milacic I et al.
Journal of Endocrinological Investigation, 2015
Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.
Németh S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Marino R et al.
Clinical Endocrinology, 2011
Molecular genetics of 21-hydroxylase deficiency.
Wedell A
Endocrine Development, 2011
Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
Vrzalová Z et al.
International Journal of Molecular Medicine, 2010
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
Bidet M et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.
Menassa R et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
Stikkelbroeck NM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003