Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up.

A Decade-Long Diagnostic Challenge: A Case of Nonclassical 21-Hydroxylase Deficiency Mistaken for Polycystic Ovary Syndrome.

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Bilateral giant adrenal myelolipomas: a rare complication of classical congenital adrenal hyperplasia.

Beyond endocrine features in non-classical congenital adrenal hyperplasia: a narrative review of psychoneuro-social perspectives in pediatric and adolescent patients.

Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency.

Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics.

Perception of women with classic congenital adrenal hyperplasia and their parents on genital surgery and a diagnosis of differences of sex development: a retrospective survey.

Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.

The Importance of Disease-specific Growth Charts for Children with Congenital Adrenal Hyperplasia.

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.

Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.

How should glucocorticoid and mineralocorticoid replacement be optimised in a young patient with classic 21-hydroxylase congenital adrenal hyperplasia?

Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.

Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.

Predicting treatment outcome in congenital adrenal hyperplasia using urine steroidomics and machine learning.

The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases.

Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia.

Causal associations between congenital adrenal hyperplasia and neuropsychiatric conditions- a Mendelian Randomization Study.

Glucocorticoid Dose and Type are Associated with Depression Scores in Youth with Classical Congenital Adrenal Hyperplasia.

Growth characteristics of children with 21-hydroxylase deficiency and the value of steroid hormones in height assessment.

Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.

Adrenal steroid hormone responses to exercise under thermal stress: Potential role for nonclassic congenital adrenal hyperplasia in heat illness susceptibility.

Immunophenotypic Implications of Reverse-Circadian Glucocorticoid Treatment in Congenital Adrenal Hyperplasia.

Genetics in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency and Clinical Implications.

Glucocorticoid therapy in classic congenital adrenal hyperplasia: traditional and new treatment paradigms.

Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.

Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.

Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Challenges in Adolescent and Adult Males With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Future Directions in the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence.

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

[Detection and characterization of the types of CYP21A1P/CYP21A2 and TNXA/TNXB fused genes by long-read sequencing among children with Steroid 21-hydroxylase deficiency].

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency.

Evaluation of Sleep Health in Children With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

CRH receptor antagonist crinecerfont - a promising new treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Anastrozole Improves Height Outcomes in Growing Children With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.

21-Hydroxylase Deficiency Detected in Neonatal Screening: High Probability of False Negativity in Late Onset Form.

Clinical characteristics and treatment during preconception and perinatal period of infertile women with non-classical 21-hydroxylase deficiency.

Prevalence of adrenal rest tumors and course of gonadal dysfunction in a clinical sample of men with congenital adrenal hyperplasia: a longitudinal analysis over 10 years.

Free Cortisol and Free 21-Deoxycortisol in the Clinical Evaluation of Congenital Adrenal Hyperplasia.

46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description.

Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.

Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.

Abiraterone in Classic Congenital Adrenal Hyperplasia: Results of Medical Therapy Before Adrenalectomy.

Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency.

Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study.

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation.

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening.

Congenital Adrenal Hyperplasia.

Genetics of 21-hydroxylase deficiency: Clinical presentation should guide the investigation.

Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: A case report and review of the literature.

Sexual dimorphism in anxiety is programmed in-utero by sex-steroids: Proof of concept using a disease-model and stress responses to COVID pandemic.

Hypoglycaemia in adrenal insufficiency.

Clinical features of non-classical 21-hydroxylase deficiency after normal newborn mass screening.

Characteristics of Patients with Classic Congenital Adrenal Hyperplasia Missed on the Newborn Screen.

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

[Experience of successful laparoscopic sleeve resection of the stomach and treatment of morbid obesity in a patient with a classic form of congenital adrenal dysfunction].

Monozygotic twins with identical premature timing of acne onset: A Case report.

Current and future perspectives on clinical management of classic 21-hydroxylase deficiency.

Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result.

The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population.

Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.

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.

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).

Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management.

Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia.

Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs.

The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.

Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia.

Compromised Adult Height in Females with Non-Classical Congenital Adrenal Hyperplasia Diagnosed in Childhood.

Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays.

Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.

Higher Body Fat but Similar Phase Angle Values in Patients with the Classical Form of Congenital Adrenal Hyperplasia in Comparison to a Control Group.

Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children.

Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing.

Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency.

The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.

Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study.

Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.

Leukocyte Telomere Length in Children With Congenital Adrenal Hyperplasia.

Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.

Elevated bone turnover markers predict bone mineral density accrual in adolescents with 21-hydroxylase deficiency.

Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Infertility with hypogonadotropic hypogonadism revealing a classic form of 21 hydroxylase deficiency in a 39 year-old man.

Adrenal steroid profiling as a diagnostic tool to differentiate polycystic ovary syndrome from nonclassic congenital adrenal hyperplasia: pinpointing easy screening possibilities and normal cutoff levels using liquid chromatography tandem mass spectrometry.

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.

A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair.

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia.

Association of androgen excess and bone mineral density in women with classical congenital adrenal hyperplasia with 21-hydroxylase deficiency.

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.

Novel treatments for congenital adrenal hyperplasia.

Adrenal Morphology as an Indicator of Long-Term Disease Control in Adults with Classic 21-Hydroxylase Deficiency.

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

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.

24-Hour Profiles of 11-Oxygenated C19 Steroids and Δ5-Steroid Sulfates during Oral and Continuous Subcutaneous Glucocorticoids in 21-Hydroxylase Deficiency.

Screening for testicular adrenal rest tumors among children with congenital adrenal hyperplasia at King Fahad Medical City, Saudi Arabia.

Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.

Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond.

Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia.

Production of 11-Oxygenated Androgens by Testicular Adrenal Rest Tumors.

Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review.

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).

Genetic aetiology of primary adrenal insufficiency in Chinese children.

Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.

Salivary Profiles of 11-oxygenated Androgens Follow a Diurnal Rhythm in Patients With Congenital Adrenal Hyperplasia.

Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies.

[Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia: Benefits and costs of a successful public health program].

Assessing the risk of having a child with classic 21-hydroxylase deficiency: a new paradigm.

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.

Bioelectrical Impedance Phase Angle and Its Determinants in Patients with Classic Congenital Adrenal Hyperplasia.

Clinical outcomes in 21-hydroxylase deficiency.

Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.

POR polymorphisms are associated with 21 hydroxylase deficiency.

[Clinical characteristics of 21 infertile women with non-classic 21-hydroxylase deficiency].

First insights into the genetics of 21-hydroxylase deficiency in the Roma population.

Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?

The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia.

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.

Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.

Insulin Resistance in Congenital Adrenal Hyperplasia is Compensated for by Reduced Insulin Clearance.

Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants.

[Analysis of the degree of clinical suspect in patients with congenital adrenal hyperplasia by 21-hydroxylase deficiency before obtaining the result of the newborn screening program of the autonomous Community of Madrid.].

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients.

False elevation of serum cortisol in chemiluminescence immunoassay by Siemens Advia Centaur XP system in 21-hydroxylase deficiency: an 'endocrine laboma'.

Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency.

Non-Classic Disorder of Adrenal Steroidogenesis and Clinical Dilemmas in 21-Hydroxylase Deficiency Combined with Backdoor Androgen Pathway. Mini-Review and Case Report.

Recurrent hepatocellular carcinoma and non-classic adreno-genital syndrome.

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.

Simple virilising congenital adrenal hyperplasia in monozygotic twins: A rare report and review of previous cases.

Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone.

A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).

[Detection of CYP21A2 gene mutations and the differences in the levels of hormones in patients with 21-hydroxylase deficiency].

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants.

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene.

Abiraterone acetate treatment lowers 11-oxygenated androgens.

WOMEN WITH NONCLASSIC CONGENITAL ADRENAL HYPERPLASIA HAVE GENDER, SEXUALITY, AND QUALITY-OF-LIFE FEATURES SIMILAR TO THOSE OF NONAFFECTED WOMEN.

Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia.

Urinary steroidomic profiles by LC-MS/MS to monitor classic 21-Hydroxylase deficiency.

Absence of Testicular Adrenal Rest Tumors in Newborns, Infants, and Toddlers with Classical Congenital Adrenal Hyperplasia.

Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia.

Cortisol and Aldosterone Responses to Hypoglycemia and Na Depletion in Women With Non-Classic 21-Hydroxylase Deficiency.

The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.

Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia.

Pregnancy in Congenital Adrenal Hyperplasia.

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.

HEALTH-RELATED QUALITY OF LIFE IN CHILDREN AND ADOLESCENTS WITH NONCLASSIC CONGENITAL ADRENAL HYPERPLASIA.

Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency.

Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment.

Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency.

Female Pseudo Hermaphroditism: Late Onset Congenital Adrenal Hyperplasia.

Birth Size in Neonates with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency.

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland.

Clinical presentation and mutational spectrum in a series of 166 patients with classical 21-hydroxylase deficiency from South China.

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

Basal levels of 17-hydroxyprogesterone can distinguish children with isolated precocious pubarche.

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany.

MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.

[Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report].

Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa.

[Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia].

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.

Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?

Vaginal bleeding and a giant ovarian cyst in an infant with 21-hydroxylase deficiency.

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature.

Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes.

The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism.

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

CYP21A2 intronic variants causing 21-hydroxylase deficiency.

Psychological vulnerability to stress in carriers of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Molecular diagnosis of Chinese patients with 21-hydroxylase deficiency and analysis of genotype-phenotype correlations.

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

Clinical significance of 11-oxygenated androgens.

Cardio-metabolic risk factors in youth with classical 21-hydroxylase deficiency.

[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.

[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].

Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia.

The urinary steroidome of treated children with classic 21-hydroxylase deficiency.

New developments in prenatal diagnosis of congenital adrenal hyperplasia.

Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.