ArticleFrontiers in endocrinology2015
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children.
Article in Frontiers in endocrinology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 75 citations in OpenAlex.
- Unmasking Isolated Glucocorticoid Deficiency: Clinical Insights From 2 Cases.JCEM case reports · 2026Article
- Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.Molecular genetics & genomic medicine · 2025Article
- AHeliyon · 2024Article
- Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study.The Journal of clinical endocrinology and metabolism · 2023Article
- Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia.Reviews in endocrine & metabolic disorders · 2023Review
- Adrenal Dysfunction in Mitochondrial Diseases.International journal of molecular sciences · 2023Review
- Case report: a premature infant with severe intrauterine growth restriction, adrenal insufficiency, and inflammatory diarrhea: a genetically confirmed case of MIRAGE syndrome.Frontiers in endocrinology · 2023Article
- Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.Journal of the Endocrine Society · 2021Article
- Genetic aetiology of primary adrenal insufficiency in Chinese children.BMC medical genomics · 2021Article
- Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis.Case reports in medicine · 2020Article
- Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Normal male external genitalia do not rule out CYP11A1 deficiency.BMJ case reports · 2019Article
- SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.The Journal of clinical endocrinology and metabolism · 2019Article
- Primary Cortisol Deficiency and Growth Hormone Deficiency in a Neonate With Hypoglycemia: Coincidence or Consequence?Journal of the Endocrine Society · 2019Article
- Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency.The Journal of clinical endocrinology and metabolism · 2019Article
- Predicted Benign and Synonymous Variants inJournal of the Endocrine Society · 2019Article
- Steroidogenic differentiation and PKA signaling are programmed by histone methyltransferase EZH2 in the adrenal cortex.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.BMC medical genetics · 2018Article
- Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant inFrontiers in endocrinology · 2018Article
- A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency.Molecular genetics & genomic medicine · 2017Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Adrenal insufficiency is a rare, but potentially fatal medical condition. In children, the cause is most commonly congenital and in recent years a growing number of causative gene mutations have been identified resulting in a myriad of syndromes that share adrenal insufficiency as one of the main characteristics. The evolution of adrenal insufficiency is dependent on the variant and the particular gene affected, meaning that rapid and accurate diagnosis is imperative for effective treatment of the patient. Common practice is for candidate genes to be sequenced individually, which is a time-consuming process and complicated by overlapping clinical phenotypes. However, with the availability, and increasing cost effectiveness of whole-exome sequencing, there is the potential for this to become a powerful diagnostic tool. Here, we report the results of whole-exome sequencing of 43 patients referred to us with a diagnosis of familial glucocorticoid deficiency (FGD) who were mutation negative for MC2R, MRAP, and STAR the most commonly mutated genes in FGD. WES provided a rapid genetic diagnosis in 17/43 sequenced patients, for the remaining 60% the gene defect may be within intronic/regulatory regions not covered by WES or may be in gene(s) representing novel etiologies. The diagnosis of isolated or familial glucocorticoid deficiency was only confirmed in 3 of the 17 patients, other genetic diagnoses were adrenal hypo- and hyperplasia, Triple A, and autoimmune polyendocrinopathy syndrome type I, emphasizing both the difficulty of phenotypically distinguishing between disorders of PAI and the utility of WES as a tool to achieve this.
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