ReviewHormone research in paediatrics2018
Monogenic Disorders of Adrenal Steroidogenesis.
Review in Hormone research in paediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.Journal of endocrinological investigation · 2023Pooled it
- Machine learning algorithms to accelerate etiological diagnosis of congenital disorders of adrenal steroidogenesis.The Journal of clinical endocrinology and metabolism · 2026Article
- Review
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Understanding the link between lipid and ocular disorders for effective therapy.Archives of medical science : AMS · 2026Article
- Genetic Insights and Lifelong Management of Aldosterone Synthase Deficiency: A Case of Hyperreninemic Hypoaldosteronism.Clinical case reports · 2026Article
- Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development.Intractable & rare diseases research · 2025Review
- Assessing cortisol levels in non-classical congenital adrenal hyperplasia: focus on the V281L variant.Therapeutic advances in endocrinology and metabolism · 2025Article
- MicroRNA regulation of adrenal glucocorticoid and androgen biosynthesis.Vitamins and hormones · 2024Article
- Clinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency.Archives of gynecology and obstetrics · 2023Article
- Androgen signalling in the ovaries and endometrium.Molecular human reproduction · 2023Review
- Adrenal hyperplasias in childhood: An update.Frontiers in endocrinology · 2022Review
- Disease-Related Protein Variants of the Highly Conserved Enzyme PAPSS2 Show Marginal Stability and Aggregation in Cells.Frontiers in molecular biosciences · 2022Article
- The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.Advances in laboratory medicine · 2021Review
- El laboratorio en el diagnóstico multidisciplinar del desarrollo sexual anómalo o diferente (DSD): III) Marcadores bioquímicos y genéticos en los 46,XY IV) Propuestas para el diagnóstico diferencial de los DSD.Advances in laboratory medicine · 2021Review
- The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.European journal of endocrinology · 2021Article
- Genomics of hypertension: the road to precision medicine.Nature reviews. Cardiology · 2021Review
- Disorders of Sex Development of Adrenal Origin.Frontiers in endocrinology · 2021Review
- Update on adrenarche.Current opinion in pediatrics · 2020Review
- Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes the principles of adrenal steroidogenesis, including the newly appreciated 11-oxygenated androgen pathway. This is followed by a description of pathophysiology, biochemistry, and clinical implications of steroidogenic disorders, including mutations affecting cholesterol import and steroid synthesis, the latter comprising both mutations affecting steroidogenic enzymes and co-factors required for efficient catalysis. A good understanding of adrenal steroidogenic pathways and their regulation is crucial as the basis for sound management of these disorders, which in the majority present in early childhood.
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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.