ReviewFrontiers in endocrinology2023
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.
Review in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature review.Orphanet journal of rare diseases · 2026Review
- Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.JCEM case reports · 2026Article
- Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (Journal of clinical & translational endocrinology · 2026Article
- Familial glucocorticoid deficiency due to a novelFrontiers in endocrinology · 2026Article
- Familial glucocorticoid deficiency: genetic insights and treatment strategies in resource-limited settings.BMJ case reports · 2025Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
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Abstract
Familial Glucocorticoid Deficiency encompasses a broad spectrum of monogenic recessive disorders that theoretically solely abrogate cortisol biosynthesis. In reality, delineating clear genotype-phenotype correlations in this disorder is made complicated by marked phenotypic heterogeneity even within kindreds harbouring identical variants. Phenotypes range from isolated glucocorticoid insufficiency to cortisol deficiency plus a variety of superimposed features including salt-wasting and hypoaldosteronism, primary hypothyroidism, hypogonadism and growth defects. Furthermore, mutation type, domain topology and perceived enzyme activity do not always predict disease severity. Given the high burden of disease and implications of a positive diagnosis, genetic testing is crucial in the management of patients warranting detailed delineation of genomic variants including viable functional studies.
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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.