ReviewCurrent opinion in endocrinology, diabetes, and obesity2022
The uncommon forms of congenital adrenal hyperplasia.
Review in Current opinion in endocrinology, diabetes, and obesity, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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
11 citing papers in PubMed.
- Knockout ofZoological research · 2026Article
- Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.Frontiers in genetics · 2026Article
- Genetic background of neonatal hypokalemia.Pediatric nephrology (Berlin, Germany) · 2025Review
- Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase DeficiencyJournal of clinical research in pediatric endocrinology · 2025Review
- A Challenging Case of Congenital Adrenal Hyperplasia Due to CYP11B1 Deficiency With Uncontrolled Hypertension.Case reports in endocrinology · 2025Article
- An in Vitro triple screen model for human mineralocorticoid receptor activity.The Journal of steroid biochemistry and molecular biology · 2024Article
- Review
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.Diagnostics (Basel, Switzerland) · 2022Review
- Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.Frontiers in endocrinology · 2022Review
- Metabolic syndrome and cardiovascular morbidity in patients with congenital adrenal hyperplasia.Frontiers in endocrinology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
purpose of reviewClinicians recognize 21-hydroxylase deficiency as the most common form of congenital adrenal hyperplasia (CAH), and many papers have been published on this condition. In contrast, much less awareness has been addressed to the other, rare forms of CAH. RECENT
findingsThe second most common form of CAH varies with country and ethnic background. In Brazil, 17-hydroxylase/17,20-lyase deficiency is the second most common, whereas 11-hydroxylase deficiency is most common in the Middle East. In Japan and Korea, both congenital lipoid adrenal hyperplasia and P450-oxidoreductase deficiency are more common than in the rest of the world. Finally, 3β-hydroxysteroid dehydrogenase/isomerase deficiency is rare worldwide, but pockets of affected populations, such as the Amish in Lancaster County, Pennsylvania are found. The treatment of each form varies by both the nature of steroids produced in excess above the enzymatic block and the deficiencies of steroids other than cortisol past these blocks. SUMMARY: This article summarizes the pathophysiology, diagnosis, and management of rare forms of CAH.
Indexed as
Identifiers
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.