ReviewEndocrine2015
Biochemical and genetic diagnosis of 21-hydroxylase deficiency.
Review in Endocrine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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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
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Pooled it
- Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency.Diagnostics (Basel, Switzerland) · 2026Article
- Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants inFrontiers in pediatrics · 2026Article
- Male sex assignment in severely virilized 46,XX children with congenital adrenal hyperplasia.Frontiers in endocrinology · 2026Article
- Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.Endocrine · 2025Review
- Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.Molecular genetics & genomic medicine · 2025Article
- Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.Endocrine reviews · 2025Review
- What is the need for adrenalectomy in patients with congenital adrenal hyperplasia in the era of CRF1/ACTH inhibitors?Frontiers in endocrinology · 2025Review
- Increased Prevalence of Accidents and Injuries in Congenital Adrenal Hyperplasia: A Population-based Cohort Study.The Journal of clinical endocrinology and metabolism · 2024Article
- Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency.Frontiers in endocrinology · 2024Review
- Approach to the Patient: Diagnosis of Primary Adrenal Insufficiency in Adults.The Journal of clinical endocrinology and metabolism · 2023Article
- Congenital adrenal hyperplasia in patients with adrenal tumors: a population-based case-control study.Journal of endocrinological investigation · 2023Article
- Long-Term Outcomes of Congenital Adrenal Hyperplasia.Endocrinology and metabolism (Seoul, Korea) · 2022Review
- CAH-X Syndrome: Genetic and Clinical Profile.Molecular diagnosis & therapy · 2022Review
- Overview of the 2022 WHO Classification of Adrenal Cortical Tumors.Endocrine pathology · 2022Review
- Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study.The Journal of clinical endocrinology and metabolism · 2022Article
- Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.Endocrine reviews · 2022Review
- Congenital adrenal hyperplasia is a very rare cause of adrenal incidentalomas in Sweden.Frontiers in endocrinology · 2022Article
- Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.Frontiers in endocrinology · 2022Review
- Adrenal myelolipomas.The lancet. Diabetes & endocrinology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene and is often fatal in its classic forms if not treated with glucocorticoids. In contrast, non-classic CAH (NCCAH), with a prevalence from 0.1 % up to a few percentages in certain ethnic groups, only results in mild partial cortisol insufficiency and patients survive without treatment. Most NCCAH cases are never identified, but unnecessary suffering due to hyperandrogenism, especially in females, can be avoided by a correct diagnosis. A 17-hydroprogesterone (17OHP) level above 300 nmol/L indicates classic CAH while 30-300 nmol/L in adult males or females (follicular phase or if anovulatoric) indicates NCCAH. The gold standard for diagnosing NCCAH is the ACTH stimulation test. Deletion, large gene conversions, and nine microconversion-derived mutations are the most common CYP21A2 mutations. However, almost 200 rare mutations have been described. Since there is a good genotype-phenotype relationship, genotyping provides valuable diagnostic, as well as prognostic information. Neonatal screening for CAH is now performed in an increasing number of countries with the main goal of reducing mortality and morbidity due to salt-losing adrenal crises in the newborn period. In addition, screening may shorten the time to diagnosis in virilized girls. Neonatal screening misses some patients with milder classic CAH and most NCCAH cases. In conclusion, diagnosing classic CAH is life-saving, but diagnosing NCCAH is also important to prevent unnecessary suffering.
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What OpenQuestion 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 OpenQuestion graph.