ReviewEndocrine2017
Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Review in Endocrine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 3 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
59 citing papers in PubMed, 3 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- [Clinical practice guidelines "Congenital adrenal hyperplasia in children" with comments].Problemy endokrinologii · 2026Guideline
- Bone Mineral Density in Adults With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis.Frontiers in endocrinology · 2020Pooled it
- Pooled it
- From Single Injection to Dual Insights: Integrating EAD and CID Acquisition for Spectral Library Generation and EAD-CID Spectral Matching.Analytical chemistry · 2026Article
- Metabolic dysfunction-associated steatotic adrenal disease: a new entity in MetS, an experimental study in rabbits.Journal of endocrinological investigation · 2026Article
- [A follow-up study of 10 Uyghur children with 11β-hydroxylase deficiency in the Xinjiang region].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.Archives of endocrinology and metabolism · 2026Article
- Challenges in Sex Assignment in 46,XX Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency and 11β-hydroxylase Deficiency in Developing Countries: Insights from an Expert Center in IndonesiaJournal of clinical research in pediatric endocrinology · 2026Article
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.Journal of endocrinological investigation · 2026Review
- Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency Presented With Leydig Cell Tumor and Testicular Adrenal Rest Tumors: A Case Report.Case reports in endocrinology · 2026Article
- Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.Frontiers in genetics · 2026Article
- Spontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review.Cureus · 2025Article
- Article
- 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
- 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
- Acquired 11β-hydroxylase Deficiency by Inhaled Etomidate and its Analogues: A Mimic of Congenital Adrenal Hyperplasia.JCEM case reports · 2024Article
- Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a ChimericJournal of clinical research in pediatric endocrinology · 2024Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.
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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.