Disease: Congenital adrenal hyperplasia type 2
- 11-Deoxycorticosterone Producing Adrenal Hyperplasia as a Very Unusual Cause of Endocrine Hypertension: Case Report and Systematic Review of the Literature
- 3beta-Hydroxysteroid Dehydrogenase Type 2 (3betaHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting
- 3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting
- 45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia -observations of vaginal introital anatomy and its relationship to the perineal body
- A Novel <em>SCNN1A</em> Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1
- A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1
- A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia
- Adeno-Associated Virus-Mediated Gene Therapy for Patients' Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal Hyperplasia
- 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
- Aldosterone signaling defect in young infants: single-center report and review
- Analysis of copy number variation of <em>CYP21A2</em> gene and the type of <em>CYP21A1P</em>/<em>CYP21A2</em> fused gene in patients with 21-hydroxylase deficiency
- Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency
- Analysis of the Screening Results for Congenital Adrenal Hyperplasia Involving 7.85 Million Newborns in China: A Systematic Review and Meta-Analysis
- Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency
- Aromatase Inhibitor Increases the Height of Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- Assisted Reproduction in Congenital Adrenal Hyperplasia
- Autoimmune Primary Adrenal Insufficiency in Children
- Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd-LIFE study
- Characteristics and karyotype analysis of a patient with turner syndrome complicated with multiple-site tumors: A case report
- Characteristics of patients with classic congenital adrenal hyperplasia missed on the newborn screen
- Characterization of a cohort of pediatric patients with Congenital Adrenal Hyperplasia
- Cigarette smoking in adolescents with type 1 diabetes mellitus and congenital adrenal hyperplasia
- Classic and current concepts in adrenal steroidogenesis: a reappraisal
- Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia
- Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia
- Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia
- Clinical Presentation of Congenital Adrenal Hyperplasia in Children: Experience in a Tertiary Care Hospital of Bangladesh
- Clinical, biochemical, and biomolecular aspects of congenital adrenal hyperplasia in a group of Cameroonian children and adolescents
- Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations
- Co-Occurrence of a Pathogenic <em>HSD3B2</em> Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia
- Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia
- Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
- Coexistence of Ovarian Granulose Cell Tumor, Congenital Adrenal Hyperplasia, and Triple Translocation: Is a Consequence or Coincidence?
- Cohort profile: pathways to care among people with disorders of sex development (DSD)
- Components of Metabolic Syndrome in Youth With Classical Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia
- Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children
- Crinecerfont Lowers Elevated Hormone Markers in Adults With 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
- Crinecerfont, a CRF1 Receptor Antagonist, Lowers Adrenal Androgens in Adolescents With Congenital Adrenal Hyperplasia
- Differences in hormonal levels between heterozygous <em>CYP21A2</em> pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
- Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
- Discovery of CRN04894: A Novel Potent Selective MC2R Antagonist
- Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley
- Disorders of Sex Development: Experience at a Tertiary Care Hospital in Bangladesh
- Do All Patients with Congenital Adrenal Hyperplasia Need to Be on Hydrocortisone Three Times a Day in Order to Have Normal Growth?
- Elevated bone turnover markers predict bone mineral density accrual in adolescents with 21-hydroxylase deficiency
- Epidemiology of rare diseases detected by newborn screening in the Czech Republic
- Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans
- Factors influencing illness uncertainty in parents of children with congenital adrenal hyperplasia in a developing country: A cross-sectional study
- Genetic diagnosis and clinical analysis of 17alpha-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report
- Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report
- Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center
- Genotype of congenital adrenal hyperplasia patients with testicular adrenal rest tumor
- Hereditary causes of primary aldosteronism and other disorders of apparent excess mineralocorticoid activity
- High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
- Hyperandrogenism and Cardiometabolic Risk in Pre- and Postmenopausal Women-What Is the Evidence?
- Hyperinsulinemic-Euglycemic Clamp Strengthens the Insulin Resistance in Nonclassical Congenital Adrenal Hyperplasia
- Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study
- Insulin Resistance in Congenital Adrenal Hyperplasia is Compensated for by Reduced Insulin Clearance
- Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients
- Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
- Meeting Report: 2019 Annual Meeting of the Endocrine Society New Orleans, LA (March 23-26, 2019)Selected Highlights
- Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo?
- Mini-review: pump therapy in endocrinology & metabolism beyond diabetes
- Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
- Monogenic forms of low-renin hypertension: clinical and molecular insights
- MORE THAN MEETS THE EYE IN A PATIENT WITH PCOS: ANDROGEN-SECRETING GRANULOSA CELL OVARIAN TUMOR IN A VIRILIZED WOMAN WITH POLYCYSTIC OVARIAN SYNDROME (PCOS)
- Myriad Manifestations of 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency-A Tale of Two Infants
- Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development
- Normal and Premature Adrenarche
- Polycystic Ovarian Disease
- Polycystic Ovarian Disease
- Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene
- Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
- Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected
- Pseudogene <em>TNXA</em> Variants May Interfere with the Genetic Testing of CAH-X
- Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in <em>SCNN1B</em>
- Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B
- Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review
- Rare forms of congenital adrenal hyperplasia
- Reassessment of predictive values of ACTH-stimulated serum 21-deoxycortisol and 17-hydroxyprogesterone to identify CYP21A2 heterozygote carriers and nonclassic subjects
- Revisiting Classical 3beta-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases
- Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases
- Sample-multiplexing by derivatization using multiple analogous reagents for enhancing throughput in LC/ESI-MS/MS assay of steroids: Plasma 17α-hydroxyprogesterone as an example
- Selective LC-MRM/SIM-MS based profiling of adrenal steroids reveals metabolic signatures of 17alpha-hydroxylase deficiency
- Selective LC-MRM/SIM-MS based profiling of adrenal steroids reveals metabolic signatures of 17α-hydroxylase deficiency
- Sensation-preserving clitoral reduction surgery: A preliminary report of our experience
- STAR mutations causing non-classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency
- STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency
- Surgical Therapy After Failed Feminizing Genitoplasty in Young Adults With Disorders of Sex Development: Retrospective Analysis and Review of the Literature
- Surgical Therapy After Failed Feminizing Genitoplasty in Young Adults with Disorders of Sex Development: Retrospective Analysis and Review of the Literature
- Techniques of Primary Vaginoplasty in Young Adults with Differences of Sex Development and Female Identification
- The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency
- The way toward adulthood for females with nonclassic congenital adrenal hyperplasia
- Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis
- Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies
- Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism
- Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X)
- Voice changes in reproductive disorders, thyroid disorders and diabetes: a review