Disease: Late-onset congenital adrenal hyperplasia
- 46,XX males with congenital adrenal hyperplasia: a clinical and biochemical description
- A Male Subject with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Which Was Diagnosed at 31 Years Old due to Infertility
- A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency
- A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
- Abiraterone in Classic Congenital Adrenal Hyperplasia: Results of Medical Therapy Before Adrenalectomy
- Adrenal and Testicular Tumor Formation Due to 21-Hydroxylase Deficiency
- Adrenal Morphology as an Indicator of Long-Term Disease Control in Adults with Classic 21-Hydroxylase Deficiency
- 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 spectrometr
- Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Aldosterone defects in infants and young children with hyperkalemia: A single center retrospective study
- Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result
- Association of androgen excess and bone mineral density in women with classical congenital adrenal hyperplasia with 21-hydroxylase deficiency
- Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening
- Biochemical monitoring of 21-hydroxylase deficiency: a clinical utility of overnight fasting urine pregnanetriol
- Blood Pressure in Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
- Body composition in children and adolescents with non-classic congenital adrenal hyperplasia and the risk for components of metabolic syndrome: An observational study
- Body Image and Quality of Life in Women with Congenital Adrenal Hyperplasia
- CAH-X Syndrome: Genetic and Clinical Profile
- Caring for a Child with Congenital Adrenal Hyperplasia Diagnosed by Newborn Screening: Parental Health-Related Quality of Life, Coping Patterns, and Needs
- Case Report: Anastrozole as a monotherapy for pre-pubertal children with non-classic congenital adrenal hyperplasia
- Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
- Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
- Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- Clinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency
- Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review
- Clinical features of non-classical 21-hydroxylase deficiency after normal newborn mass screening
- Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing
- Compromised Adult Height in Females with Non-Classical Congenital Adrenal Hyperplasia Diagnosed in Childhood
- Congenital Adrenal Hyperplasia
- Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera
- Congenital Adrenal Hyperplasia in Children: The Relationship between Plasma Renin Activity and Hypertension
- Congenital adrenal hyperplasia with a <em>CYP21A2</em> deletion overlapping the tenascin-X gene: an atypical presentation
- Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male
- Consensus on laboratory diagnosis of 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)
- Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents with Congenital Adrenal Hyperplasia
- Current and future perspectives on clinical management of classic 21-hydroxylase deficiency
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development
- Differences in hormonal levels between heterozygous <em>CYP21A2</em> pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
- Dosage of hydrocortisone during late infancy is positively associated with changes in body mass index during early childhood in patients with 21-hydroxylase deficiency
- Editorial: Recent advances in diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Elevated bone turnover markers predict bone mineral density accrual in adolescents with 21-hydroxylase deficiency
- Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis
- 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
- Fertility and pregnancy outcomes in women with nonclassic 21-hydroxylase deficiency
- First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly in 21-Hydroxylase Deficiency
- Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- 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
- Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
- Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- Genetics of 21-hydroxylase deficiency: Clinical presentation should guide the investigation
- Genotype-phenotype association in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children
- Genotype-phenotype correlation in patients with 21-hydroxylase deficiency
- Genotype-Specific Cortisol Reserve in a Cohort of Subjects With Nonclassic Congenital Adrenal Hyperplasia (NCCAH)
- Higher Body Fat but Similar Phase Angle Values in Patients with the Classical Form of Congenital Adrenal Hyperplasia in Comparison to a Control Group
- Hypoglycaemia in adrenal insufficiency
- Increased risk of nephrolithiasis: an emerging issue in children 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
- Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management
- 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
- Leukocyte Telomere Length in Children With Congenital Adrenal Hyperplasia
- Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency
- Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
- Memory in female adolescents with 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
- Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach
- Monitoring treatment in pediatric patients with 21-hydroxylase deficiency
- Monozygotic twins with identical premature timing of acne onset: A Case report
- Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review
- Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
- Nonclassical congenital adrenal hyperplasia: Metabolic and hormonal profile
- Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy
- Novel treatments for congenital adrenal hyperplasia
- Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention
- Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia
- Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns
- Predictors of Cardiovascular Morbidities in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
- Pregnancy management of IVF-ET pregnancies in a patient with classical 21-hydroxylase deficiency: A case report and review of the literature
- Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
- Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency
- Pseudogene <em>TNXA</em> Variants May Interfere with the Genetic Testing of CAH-X
- Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report
- Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation
- 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
- Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia
- Screening for non-classic congenital adrenal hyperplasia in women: New insights using different immunoassays
- Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess
- Sexual dimorphism in anxiety is programmed in-utero by sex-steroids: Proof of concept using a disease-model and stress responses to COVID pandemic
- So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity
- Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency
- Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency
- The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency
- The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum
- The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population
- The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant
- The utility of annual growth velocity standard deviation scores and measurements of biochemical parameters in long-term treatment monitoring of children with 21-hydroxylase deficiency
- Ultrasound finding of vaginal bleeding in infants with 21-hydroxylase deficiency
- Underestimation of kidney function due to poorly controlled 21-hydroxylase deficiency