ArticleJournal of the Endocrine Society2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Article in Journal of the Endocrine Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 56 citations in OpenAlex.
- The pivotal role of etiology in managing Non-CAH primary adrenal insufficiency in pediatric and adolescent populations: A Single-Center study.Endocrine · 2026Article
- Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (Journal of clinical & translational endocrinology · 2026Article
- Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.JCEM case reports · 2026Article
- Clinical challenges of an Xp21 contiguous gene deletion syndrome in a newborn and 15 months of follow-up - case report.Frontiers in endocrinology · 2026Article
- Metabolomic fingerprints of clustered preterm and term neonates - a pilot study.Frontiers in endocrinology · 2025Observational
- Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.Molecular genetics & genomic medicine · 2025Article
- Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.Orphanet journal of rare diseases · 2024Article
- Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.Children (Basel, Switzerland) · 2024Article
- Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.Hormone research in paediatrics · 2024Article
- An integrated single-cell analysis of human adrenal cortex development.JCI insight · 2023Article
- Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.Orphanet journal of rare diseases · 2023Article
- Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.Reviews in endocrine & metabolic disorders · 2023Review
- A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.Molecular syndromology · 2023Article
- History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology.Endocrine reviews · 2023Article
- Autoimmune primary adrenal insufficiency -current diagnostic approaches and future perspectives.Frontiers in endocrinology · 2023Review
- Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome.Frontiers in endocrinology · 2023Review
- Management of a Girl With Delayed Puberty and Elevated Gonadotropins.Journal of the Endocrine Society · 2022Article
- GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.BMC pediatrics · 2022Article
- A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review.Endocrine connections · 2022Review
- Can Digenic, Tri-Allelic Inheritance of Variants inFrontiers in endocrinology · 2022Article
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Authors and funding
30 authors at 16 institutions in 2 countries.
Funding
Abstract
contextAlthough primary adrenal insufficiency (PAI) in children and young people is often due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur. The relative prevalence of these conditions is poorly understood.
objectiveWe investigated genetic causes of PAI in children and young people over a 25 year period. DESIGN SETTING AND
participantsUnpublished and published data were reviewed for 155 young people in the United Kingdom who underwent genetic analysis for PAI of unknown etiology in three major research centers between 1993 and 2018. We pre-excluded those with CAH, autoimmune, or metabolic causes. We obtained additional data from NR0B1 (DAX-1) clinical testing centers. INTERVENTION AND OUTCOME MEASUREMENTS: Genetic analysis involved a candidate gene approach (1993 onward) or next generation sequencing (NGS; targeted panels, exomes) (2013-2018).
resultsA genetic diagnosis was reached in 103/155 (66.5%) individuals. In 5 children the adrenal insufficiency resolved and no genetic cause was found. Pathogenic variants occurred in 11 genes:
conclusionsPAI in children and young people often has a genetic basis. Establishing the specific etiology can influence management of this lifelong condition. NGS approaches improve the diagnostic yield when many potential candidate genes are involved.
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