Associated Papers
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.
Liang D et al.
Genome Medicine, 2025
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
Nguyen KN et al.
Annals of Pediatric Endocrinology & Metabolism, 2025
Assisted Reproduction Technology Treatment Outcomes in Female Carriers of 21-Hydroxylase Deficiency.
Arcaz AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.
de Sousa Azulay RS et al.
Genes, 2025
Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia.
Aldalaan H et al.
Frontiers in Endocrinology, 2025
Abiraterone in Classic Congenital Adrenal Hyperplasia: Results of Medical Therapy Before Adrenalectomy.
Stuckey BGA et al.
Jcem Case Reports, 2024
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.
Anastasovska V et al.
Endocrine, 2021
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
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Papadakis GE et al.
Human Reproduction (oxford, England), 2020
A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
Vu CD et al.
Advances in Experimental Medicine and Biology, 2020
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.
Wang X et al.
Frontiers in Genetics, 2020
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
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
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
Dubey S et al.
The Indian Journal of Medical Research, 2017
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
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
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia.
Mohamed S et al.
Saudi Medical Journal, 2015
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
New MI et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
Cantürk C et al.
Clinical Chemistry, 2011
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Yu Y et al.
Genetic Testing and Molecular Biomarkers, 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
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