Associated Papers
Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.
de Sousa Azulay RS et al.
Genes, 2025
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
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
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 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
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Neocleous V et al.
International Journal of Endocrinology, 2017
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
Genetic defects of the CYP21A2 gene in girls with premature adrenarche.
Skordis N et al.
Journal of Endocrinological Investigation, 2015
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations.
Neocleous V et al.
Indian Journal of Endocrinology and Metabolism, 2014
A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Coeli-Lacchini FB et al.
Gene, 2013
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
Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Neocleous V et al.
Georgian Medical News, 2012
Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia.
Skordis N et al.
Clinical Biochemistry, 2011
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