Associated Papers
A Decade-Long Diagnostic Challenge: A Case of Nonclassical 21-Hydroxylase Deficiency Mistaken for Polycystic Ovary Syndrome.
Kondo E et al.
The Journal of Obstetrics and Gynaecology Research, 2026
Assisted Reproduction Technology Treatment Outcomes in Female Carriers of 21-Hydroxylase Deficiency.
Arcaz AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy.
Bindellini D et al.
Cpt: Pharmacometrics & Systems Pharmacology, 2025
Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.
Baronio F et al.
Journal of Endocrinological Investigation, 2025
Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-Hydroxylase Deficiency in 457 Individuals.
Lao Q et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Longitudinal Characterization and Sonographic Staging of Testicular Adrenal Rest Tumors.
Vaid S et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.
Atas N et al.
Molecular Genetics & Genomic Medicine, 2025
PGT-M as A Family Planning Tool for A Couple in Which The Woman Carries A Novel NCAH Variant and A CYP21A2 Variant also Present in Her Husband: A Case Report.
Cavagnoli M et al.
International Journal of Fertility & Sterility, 2025
Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.
de Sousa Azulay RS et al.
Genes, 2025
Can Incorporating Molecular Testing Improve the Accuracy of Newborn Screening for Congenital Adrenal Hyperplasia?
Sarafoglou K et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Identification of a Homozygous Variant in the CYP21A2 Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA.
Petrillo N et al.
Genes, 2025
Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Engberg H et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Yang M et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant.
Bilici ME et al.
Therapeutic Advances in Endocrinology and Metabolism, 2025
Genotype-Phenotype Correlation and Feminizing Surgery in Danish Children with Congenital Adrenal Hyperplasia.
Lind-Holst M et al.
Hormone Research in Paediatrics, 2024
Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.
Xia Y et al.
Orphanet Journal of Rare Diseases, 2024
Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.
Ertorer ME et al.
Endocrine, 2024
Non Typical Type 1 Diabetes Mellitus Onset in a Child With Salt-Wasting Congenital Adrenal Hyperplasia.
Rodofile F et al.
Jcem Case Reports, 2024
High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia.
Ravichandran L et al.
Endocrine, 2024
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Neocleous V et al.
Orphanet Journal of Rare Diseases, 2024
Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH).
Koren I et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: A case report and review of the literature.
Yu J et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.
Yoon JH et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.
Jiang Y et al.
Molecular Cytogenetics, 2024
Growth and Treatment in Congenital Adrenal Hyperplasia: An Observational Study from Diagnosis to Final Height.
Gidlöf S et al.
Hormone Research in Paediatrics, 2024
Bone mineral density determinants in adolescents and young adults with congenital adrenal hyperplasia.
Navardauskaite R et al.
Frontiers in Pediatrics, 2024
Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen.
McCann-Crosby B et al.
International Journal of Neonatal Screening, 2023
Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management.
Sarafoglou K et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
Li H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Monteiro A et al.
Hormones (athens, Greece), 2023
Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children.
Ermakhanova T et al.
Clinical Endocrinology, 2023
Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.
Hosomi SS et al.
Archives of Endocrinology and Metabolism, 2023
Characteristics of Congenital Adrenal Hyperplasia Diagnosed in Adulthood: A Literature Review and Case Series.
Hubska J et al.
Journal of Clinical Medicine, 2023
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.
Saho R et al.
Frontiers in Endocrinology, 2023
Lessons Learned from 17 Years of Multidisciplinary Care for Differences of Sex Development Patients at a Single Indonesian Center.
Faradz SMH et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2023
Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report.
Liang D et al.
Medicine, 2022
Syrian females with congenital adrenal hyperplasia: a case series.
Dehneh N et al.
Journal of Medical Case Reports, 2022
Molecular analysis and genotype-phenotype correlations in patients with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency from southern Poland - experience of a clinical center.
Kurzyńska A et al.
Hormones (athens, Greece), 2022
CAH-X Syndrome: Genetic and Clinical Profile.
Concolino P et al.
Molecular Diagnosis & Therapy, 2022
Cardiometabolic Health in Adolescents and Young Adults with Congenital Adrenal Hyperplasia.
Navardauskaite R et al.
Medicina (kaunas, Lithuania), 2022
Hyperinsulinemic-Euglycemic Clamp Strengthens the Insulin Resistance in Nonclassical Congenital Adrenal Hyperplasia.
Delai A et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population.
Mahmoud RAA et al.
Journal of Endocrinological Investigation, 2022
Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond.
Troger T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study.
Falhammar H et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL et al.
Endocrine Reviews, 2022
Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia.
Weber J et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children.
Tolba A et al.
Frontiers in Genetics, 2022
Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia.
Ravichandran L et al.
Methodsx, 2022