ReviewEndocrine reviews2022
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Review in Endocrine reviews, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 277 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
277 citing papers in PubMed, 5 syntheses or guidelines pooled it, 188 citations in OpenAlex.
- Self-Perception of Reproductive Health, Mental Health, and Quality of Life in Females With Classical Congenital Adrenal Hyperplasia: A Systematic Review.Journal of the ASEAN Federation of Endocrine Societies · 2026Pooled it
- [Clinical practice guidelines "Congenital adrenal hyperplasia in children" with comments].Problemy endokrinologii · 2026Guideline
- Society for Endocrinology Clinical Practice Guideline for the Evaluation of Androgen Excess in Women.Clinical endocrinology · 2025Guideline
- 17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Adult Height Following Prepubertal Treatment With Antiandrogen, Aromatase Inhibitor, and Reduced Hydrocortisone in CAH.The Journal of clinical endocrinology and metabolism · 2025Trial
- Proof of concept for a superior therapeutic index of corticosterone compared with hydrocortisone in patients with congenital adrenal hyperplasia.European journal of endocrinology · 2024Trial
- Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia.The New England journal of medicine · 2024Trial
- Exploring Factors Associated With Parental Acceptance-Rejection Among Parents of Children With Congenital Adrenal Hyperplasia in Central Java, Indonesia.Journal of genetic counseling · 2026Article
- Gender Dysphoria Among 46,XX Patients Diagnosed with Congenital Adrenal Hyperplasia in Childhood: A Case Series.Journal of clinical psychology in medical settings · 2026Article
- Trajectory-based analysis of growth in congenital adrenal hyperplasia: therapeutic implications for final height preservation.European journal of pediatrics · 2026Observational
- Newborn screening for congenital adrenal hyperplasia: a 3 years study embedded in 25 years of regional experience in Italy.Endocrine · 2026Article
- Machine learning algorithms to accelerate etiological diagnosis of congenital disorders of adrenal steroidogenesis.The Journal of clinical endocrinology and metabolism · 2026Article
- Pediatric endocrine disorders: a review of intra-abdominal findings and appropriate imaging.Pediatric radiology · 2026Review
- Bilateral giant myelolipomas in a female patient with untreated 21-hydroxylase deficiency.JCEM case reports · 2026Article
- Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management.Clinical endocrinology · 2026Review
- Acute adrenal crisis after orchiectomy for testicular adrenal rest tumors in untreated congenital adrenal hyperplasia.JCEM case reports · 2026Article
- Functional analysis of 11 CYP21A2 variants reveals greater loss of enzyme activity in cis variants and improves genotype-phenotype correlation in 21-hydroxylase deficiency.Journal of endocrinological investigation · 2026Article
- Approach to the patient: investigation of postmenopausal androgen excess.The Journal of clinical endocrinology and metabolism · 2026Review
- Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.Endocrine · 2026Article
217 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 17 institutions in 8 countries.
Funding
Abstract
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000, there have been numerous new developments. These include 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. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in CAH with special attention to these new developments.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.