ReviewBest practice & research. Clinical endocrinology & metabolism2009
Genetics of congenital adrenal hyperplasia.
Review in Best practice & research. Clinical endocrinology & metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 118 papers, 2 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.
Adrenal Hyperplasia Among Young Patients With Polycystic Ovarian Syndrome
Activity of Abiraterone Acetate in the Management of Cushing's Syndrome in Patients With Adrenocortical Carcinoma
Who cites it
118 citing papers in PubMed, 2 syntheses or guidelines pooled it, 302 citations in OpenAlex.
- [Clinical practice guidelines "Congenital adrenal hyperplasia in children" with comments].Problemy endokrinologii · 2026Guideline
- Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.Archives of endocrinology and metabolism · 2023Pooled it
- Multi-biomarker models based on the androgen backdoor pathway for diagnosing 17α-hydroxylase/17,20-lyase deficiency.Endocrine · 2026Article
- Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.Endocrine · 2026Article
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing.International journal of neonatal screening · 2026Article
- [Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation.Endocrinology, diabetes & metabolism case reports · 2026Article
- Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype.Journal of clinical medicine · 2026Article
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
- Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia.Frontiers in endocrinology · 2026Article
- Live Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant.International journal of women's health · 2026Article
- Clinical tools for evaluating congenital adrenal hyperplasia in resource-limited hospitals: a study at a tertiary hospital in Saudi Arabia.Frontiers in endocrinology · 2026Article
- Rhabdomyolysis: Initial Presentation of Congenital Adrenal Hyperplasia.Indian journal of pediatrics · 2026Article
- 21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation.Archives of disease in childhood · 2025Article
- Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.Annals of pediatric endocrinology & metabolism · 2025Article
- Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing.Orphanet journal of rare diseases · 2025Article
- Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novelJournal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing.Molecular genetics & genomic medicine · 2025Article
- PERSPECTIVE: Treatment with hydrocortisone modified-release capsules in children and adolescents with congenital adrenal hyperplasia: an expert opinion.Endocrine connections · 2025Review
58 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
2 authors at 1 institution in 1 country.
Funding
Abstract
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of one of four steroidogenic enzymes involved in cortisol biosynthesis or in the electron donor enzyme P450 oxidoreductase (POR) that serves as electron donor to steroidogenic cytochrome P450 (CYP) type II enzymes. The biochemical and clinical phenotype depends on the specific enzymatic defect and the impairment of specific enzyme activity. Defects of steroid 21-hydroxylase (CYP21A2) and 11beta-hydroxylase (CYP11B1) only affect adrenal steroidogenesis, whereas 17alpha-hydroxylase (CYP17A1) and 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency also impact on gonadal steroid biosynthesis. Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1-CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes.
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.