Approach to the Patient: Diagnosis of Primary Adrenal Insufficiency in Adults

Øksnes, Marianne; Husebye, Eystein S.

doi:10.1210/clinem/dgad402

Cited by 2 publications

(3 citation statements)

References 54 publications

(58 reference statements)

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“…All patients had serum autoantibodies against 21 hydroxylase, confirming the significance of this marker for the diagnosis of AAI [12]. In the analyzed group, all individuals had AIRE gene variants that were either benign or likely benign (Table S3).…”

Section: Discussionmentioning

confidence: 53%

“…However, the rarity of AAI in Russia makes it unfeasible to collect DNA samples from thousands of patients required to conduct GWAS to determine the significance of certain variant for pathogenesis. For instance, primary adrenal insufficiency has a global prevalence rate of 115 patients per 1 million population [12]. For Russia, a country with a population exceeding 140 million people, conducting GWAS studies is feasible.…”

Section: Discussionmentioning

confidence: 99%

“…In type I diabetes mellitus, the most extensively researched autoantibodies include those targeting glutamate decarboxylase (GAD), insulin (IAA), tyrosine phosphatase (IA2), zinc transporter (ZnT8), and islets of Langerhans cells (ICA) [10,11]. A highly sensitive method for confirming the autoimmune origin of adrenal insufficiency is by measuring Ab to P450c21 (21 hydroxylase, 21-OH), a steroidogenesis enzyme that is exclusively expressed in the adrenal cortex [12]. Finally, autoantibodies to interferon-ω (IFN-ω) and -α2 (IFN-α2), and, when cutaneous mucosal candidiasis is present, also to interleukin-22 (IL- 22), have been found in the majority of patients with APS-1 [13,14].…”

Section: Introductionmentioning

confidence: 99%

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Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

Buianova,

Yukina,

Cheranev

et al. 2023

Preprint

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Trio-based exome sequencing and high-resolution HLA typing were employed to analyze three patients with autoimmune adrenal insufficiency (AAI), including those with autoimmune polyglandular syndrome (APS) type 2, as well as their parents. Benign or likely benign variants of the AIRE gene were identified in all participants of the study. These variants, coupled with clinical data and the results of antibody studies to type I interferons, helped to exclude APS-1. Patients with APS-2, in contrast to patient with AAI, inherited distinct variants of unknown significance in the CLEC16A gene, which is associated with autoimmune diseases including AAI. Various risk alleles in other genes associated with autoimmunity were identified in all patients. HLA typing of second class loci revealed alleles related to APS types 2, 3, and 4. Nevertheless, the frequencies of the haplotypes identified are substantial in the healthy Russian population, precluding from regarding these alleles as genetic determinants linked to APS development. Immunological examination can detect antibody carriers and predict the risk of autoimmune disease development. In the future, to identify genetic predictors of autoimmune endocrinopathies, it is recommended to analyze the whole genome of patients and their relatives, examining clinically relevant variants in non-coding regions.

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Section: Discussionmentioning

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

Buianova,

Yukina,

Cheranev

et al. 2023

Preprint

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Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome

Buianova,

Yukina,

Cheranev

et al. 2024

PLoS ONE

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Autoimmune adrenal insufficiency (AAI) is a rare disease. This research evaluates three patients with AAI, including autoimmune polyglandular syndrome (APS) type 2. Two patients had APS or AAI during childhood, and one had a history of endocrine autoimmune disease, indicating a possible hereditary basis of the condition. Trio-based exome sequencing and high-resolution HLA typing were employed to analyze patients and their parents. Benign or likely benign variants of the AIRE gene were identified in all participants of the study. These variants, coupled with clinical data and the results of antibody studies to type I interferons, helped to exclude APS-1. Patients with APS-2, in contrast to patient with AAI, inherited distinct variants of unknown significance in the CLEC16A gene, which is associated with autoimmune diseases, including AAI. Various risk alleles in other genes associated with autoimmunity were identified in all patients. HLA typing of class II loci revealed alleles related to APS. Nevertheless, the frequencies of the haplotypes identified are substantial in the healthy Russian population. Immunological tests can detect antibody carriers and assess the risk of autoimmune disease development. In the future, to identify genetic predictors of autoimmune endocrinopathies, it is recommended to analyze the whole genome of patients and their relatives, examining clinically relevant variants in non-coding regions.

show abstract

Approach to the Patient: Diagnosis of Primary Adrenal Insufficiency in Adults

Cited by 2 publications

References 54 publications

Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome

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