Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

  title={Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.},
  author={Deborah P. Merke and Richard J. Auchus},
  journal={The New England journal of medicine},
  volume={383 13},
  • D. Merke, R. Auchus
  • Published 23 September 2020
  • Medicine
  • The New England journal of medicine
CAH Due to 21-Hydroxylase Deficiency Congenital adrenal hyperplasia, a common autosomal recessive disorder, is potentially life-threatening in its classic form and may be asymptomatic or cause fema... 
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Genetic Characterization and the Genotype–Phenotype Correlation
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The most common form of congenital adrenal hyperplasia (CAH) is due to 21-hydroxylase deficiency (21-OHd), a disease that is inherited in an autosomal recessive pattern due to the presence of
Diagnostic Challenges in Nonclassical Congenital Adrenal Hyperplasia
Current challenges in the diagnosis of nonclassical 21-hydroxylase deficiency (21-OHd), including the reasons that justify screening for this disorder, the clinical situations in which such screening is required, recent advances in the methods used in different settings, and the consequences that might arise from a diagnosis of 21- OHd NCAH are reviewed.
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Clinicians recognize 21-hydroxylase deficiency as the most common form of congenital adrenal hyperplasia (CAH), but much less awareness has been addressed to the other, rare forms of CAH.
Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management.
Current insights in congenital adrenal hyperplasia are provided with special attention to more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods.
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.
A detailed molecular investigation of 13 newborns affected from the severe form of congenital adrenal hyperplasia related to 21-hydroxylase deficiency led to the identification of two novel frameshift CYP21A2 pathogenic variants related to the salt-wasting form of conjoined twins.
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant
An overview of causes of childhood AI is provided, with a focus on genetic conditions that present in the first few months of life.
Components of Metabolic Syndrome in Youth With Classical Congenital Adrenal Hyperplasia
The aim of this review is to evaluate the recent literature on traditional cardiometabolic risk factors in youth with classical CAH, and to consider non-traditional risk factors/biomarkers for subclinical atherosclerosis, inflammation, and insulin resistance.
Clinical outcomes in 21-hydroxylase deficiency
The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in addition to the problems that may arise due to androgen over-exposure, which needs regular monitoring.
Tildacerfont in Adults With Classic Congenital Adrenal Hyperplasia: Results from Two Phase 2 Studies
For patients with 21OHD, up to 12 weeks of oral tildacerfont reduced or maintained key hormone biomarkers toward normal, and participants with baseline A4 ≤ 2× ULN maintained biomarker levels.