ReviewReviews in endocrine & metabolic disorders2007
Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Review in Reviews in endocrine & metabolic disorders, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses 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
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 96 citations in OpenAlex.
- Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia.The Cochrane database of systematic reviews · 2020Pooled it
- Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.The Journal of clinical endocrinology and metabolism · 2010Guideline
- Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal HyperplasiaJournal of clinical research in pediatric endocrinology · 2023Observational
- A rare case report about a congenital adrenal hyperplasia by 21-hydroxylase lock in its pure virilizing form discovered in adolescence.Annals of medicine and surgery (2012) · 2022Article
- High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Article
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.European journal of human genetics : EJHG · 2020Article
- Health-related quality of life of female patients with congenital adrenal hyperplasia in Malaysia.Health and quality of life outcomes · 2020Article
- Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population.Frontiers in genetics · 2020Article
- Congenital Adrenal Hyperplasia Presenting as Pulseless Ventricular Tachycardia in a Neonate.Cureus · 2019Article
- Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Annals of pediatric endocrinology & metabolism · 2016Review
- Dried blood spot testing for seven steroids using liquid chromatography-tandem mass spectrometry with reference interval determination in the Korean population.Annals of laboratory medicine · 2015Article
- Genotype in the diagnosis of 21-hydroxylase deficiency: who should undergo CYP21A2 analysis?Journal of endocrinological investigation · 2013Article
- Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report.Journal of medical case reports · 2013Article
- Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed.BMJ case reports · 2013Article
- Prenatal treatment of congenital adrenal hyperplasia-not standard of care.Journal of genetic counseling · 2012Review
- 21-hydroxylase deficiency: newborn screening in iran?Iranian journal of pediatrics · 2012Article
- Adrenal gland: Congenital adrenal hyperplasia: new treatment guidelines.Nature reviews. Endocrinology · 2011Article
- Proteomic profiles in hyperandrogenic syndromes.Journal of endocrinological investigation · 2010Article
- Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative.International journal of pediatric endocrinology · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal-recessive disease causing cortisol deficiency, aldosterone deficiency and hyperandrogenism. Diagnosis of 21-OHD is confirmed by steroid analysis in newborn screening or later on. Standard medical treatment consists of oral glucocorticoid and mineralocorticoid administration in order to suppress adrenal androgens and to compensate for adrenal steroid deficiencies. However, available treatment is far from ideal, and not much is known about the long-term outcome in CAH as trials in patients in adulthood or old age are rare. Here we briefly describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. Novel insights have been gained in the fields of newborn screening, specific steroid measurement utilizing mass spectrometry, genetics, glucocorticoid stress dosing, additive medical therapy, prenatal treatment, side-effects of medical treatment, adrenomedullary involvement, metabolic morbidity, fertility and gender identity. However, many issues are still unresolved, and novel questions, which will have to be answered in the future, arise with every new finding.
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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.