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
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
Infertility with hypogonadotropic hypogonadism revealing a classic form of 21 hydroxylase deficiency in a 39 year-old man.
Ilboudo A et al.
Annales D'endocrinologie, 2022
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
Yoon JY et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
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
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.
Yoo Y et al.
Annals of Pediatric Endocrinology & Metabolism, 2013
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
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.
Yu Y et al.
Genetic Testing and Molecular Biomarkers, 2011
Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia.
Jin HY et al.
Korean Journal of Pediatrics, 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