-
The Journal of Clinical Endocrinology... Jun 2021Primary ovarian insufficiency (POI) is defined by menopause before 40 years of age. POI prevalence is higher among women with autoimmune Addison's disease (AAD) than in... (Observational Study)
Observational Study
CONTEXT
Primary ovarian insufficiency (POI) is defined by menopause before 40 years of age. POI prevalence is higher among women with autoimmune Addison's disease (AAD) than in the general population, but their clinical characteristics are insufficiently studied.
OBJECTIVE
To assess the prevalence of POI in a large cohort of women with AAD and describe clinical, immunological, and genetic characteristics.
METHODS
An observational population-based cohort study of the Norwegian National Addison Registry. The Norwegian Prescription Database was used to assess prescription of menopausal hormone replacement therapy (HRT). A total of 461 women with AAD were studied. The primary outcome measure was prevalence of POI. Secondary outcomes were clinical characteristics, autoantibodies, and genome-wide single nucleotide polymorphism variation.
RESULTS
The prevalence of POI was 10.2% (47/461) and one-third developed POI before 30 years of age. POI preceded or coincided with AAD diagnosis in more than half of the women. The prevalence of concomitant autoimmune diseases was 72%, and AAD women with POI had more autoantibodies than AAD women without (≥2 autoantibodies in 78% vs 25%). Autoantibodies against side-chain cleavage enzyme (SCC) had the highest accuracy with a negative predictive value for POI of 96%. HRT use was high compared to the age adjusted normal population (11.3 % vs 0.7%).
CONCLUSION
One in 10 women with AAD have POI. Autoantibodies against SCC are the most specific marker for autoimmune POI. We recommend testing women with AAD <40 years with menstrual disturbances or fertility concerns for autoantibodies against SCC.
Topics: Addison Disease; Adult; Autoantibodies; Cholesterol Side-Chain Cleavage Enzyme; Female; Hormone Replacement Therapy; Humans; Menopause, Premature; Norway; Polymorphism, Single Nucleotide; Predictive Value of Tests; Prevalence; Primary Ovarian Insufficiency; Registries
PubMed: 33686417
DOI: 10.1210/clinem/dgab140 -
Proceedings of the Royal Society of... May 1950
Topics: Addison Disease; Adrenal Insufficiency; Diabetes Mellitus; Hypoadrenocorticism, Familial
PubMed: 15430335
DOI: No ID Found -
Annals of the Rheumatic Diseases Mar 1957
Topics: Addison Disease; Adrenal Insufficiency; Arthritis; Arthritis, Rheumatoid; Humans; Hypoadrenocorticism, Familial
PubMed: 13412010
DOI: 10.1136/ard.16.1.82 -
International Journal of Environmental... Jul 2017Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In...
BACKGROUND
Celiac disease (CD) is an autoimmune disorder deriving from an aberrant adaptive immune response against gluten-containing grains in genetically predisposed subjects. In a number of patients, CD is associated with one or more other autoimmune diseases. Primary Addison's disease (AD) and CD may co-exist, although this association is relatively uncommon in children. In addition, it is not precisely defined whether a gluten-free diet influences the course of AD.
CASE PRESENTATION
A case of CD in a 12-year-old boy presenting as acute adrenal insufficiency is described here. A gluten-free diet had a significant therapeutic role in this case, wherein most of the clinical signs and symptoms of AD disappeared in a few days. In addition, the dosage of cortisol acetate, initially administered to treat the AD, was able to be rapidly reduced.
CONCLUSION
This case highlights that CD can be associated with AD in children, and a gluten-free diet seems to positively influence the course of AD.
Topics: Addison Disease; Celiac Disease; Child; Diet, Gluten-Free; Humans; Hydrocortisone; Male
PubMed: 28758924
DOI: 10.3390/ijerph14080855 -
Annals of the Rheumatic Diseases Jan 1987Since the first description of primary adrenocortical insufficiency by Thomas Addison in 1855 several large series of patients with Addison's disease have been...
Since the first description of primary adrenocortical insufficiency by Thomas Addison in 1855 several large series of patients with Addison's disease have been published. The common signs and symptoms include: weakness, hyperpigmentation, weight loss, gastrointestinal complaints, and hypotension. It is rare for patients with Addison's disease to present with musculoskeletal symptoms including flexion contractures, hyperkalaemic neuromyopathy, Guillain-Barré syndrome, migratory myalgia, sciatica-like pain, and low back pain. Myopathy has not been previously described in Addison's disease. Herein we report a patient presenting with severe hyponatraemia and myopathy which resolved after steroid replacement therapy.
Topics: Addison Disease; Adult; Female; Humans; Hyponatremia; Muscular Diseases
PubMed: 3813679
DOI: 10.1136/ard.46.1.81 -
BMJ Case Reports Mar 2018A 67-year-old Caucasian woman with no prior medical history was admitted to our hospital with complaints of generalised weakness, nausea, diarrhoea and weight loss. The...
A 67-year-old Caucasian woman with no prior medical history was admitted to our hospital with complaints of generalised weakness, nausea, diarrhoea and weight loss. The patient suffered from tachycardia and hypotension. Blood tests revealed Graves' thyrotoxicosis and the patient was treated accordingly. However, patient's health continued to decline rapidly and further tests revealed a concomitant Addisonian crisis. Additional treatment with corticosteroids led to a full recovery. It is well known that autoimmune endocrine disorders tend to cluster. However, the presentation is usually sequential in time. This case reports the highly rare simultaneous presentation of Addison's disease and Graves' thyrotoxicosis. It also provides several suggestions to help establish the diagnoses.
Topics: Addison Disease; Adrenocorticotropic Hormone; Aged; Biomarkers; Blood Urea Nitrogen; Creatinine; Female; Graves Disease; Humans; Thyrotoxicosis
PubMed: 29507013
DOI: 10.1136/bcr-2017-222355 -
Frontiers in Immunology 2024Autoimmune Addison's disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide...
Autoimmune Addison's disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes, which mostly encode proteins participating in the immune response, affect the risk of developing this condition. However, little is known about the contribution of copy number variations (CNVs) to AAD susceptibility. We used the genome-wide genotyping data from Norwegian and Swedish individuals (1,182 cases and 3,810 controls) to investigate the putative role of CNVs in the AAD aetiology. Although the frequency of rare CNVs was similar between cases and controls, we observed that larger deletions (>1,000 kb) were more common among patients (OR = 4.23, 95% CI 1.85-9.66, p = 0.0002). Despite this, none of the large case-deletions were conclusively pathogenic, and the clinical presentation and an AAD-polygenic risk score were similar between cases with and without the large CNVs. Among deletions exclusive to individuals with AAD, we highlight two ultra-rare deletions in the genes and , which we speculate might have contributed to the polygenic risk in these carriers. In conclusion, rare CNVs do not appear to be a major cause of AAD but further studies are needed to ascertain the potential contribution of rare deletions to the polygenic load of AAD susceptibility.
Topics: Humans; Addison Disease; DNA Copy Number Variations; Genome-Wide Association Study; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Adaptor Proteins, Signal Transducing
PubMed: 38562931
DOI: 10.3389/fimmu.2024.1374499 -
Frontiers in Endocrinology 2023The adrenal glands are small endocrine glands located on top of each kidney, producing hormones regulating important functions in our body like metabolism and stress.... (Review)
Review
The adrenal glands are small endocrine glands located on top of each kidney, producing hormones regulating important functions in our body like metabolism and stress. There are several underlying causes for adrenal insufficiency, where an autoimmune attack by the immune system is the most common cause. A number of genes are known to confer early onset adrenal disease in monogenic inheritance patterns, usually genetic encoding enzymes of adrenal steroidogenesis. Autoimmune primary adrenal insufficiency is usually a polygenic disease where our information recently has increased due to genome association studies. In this review, we go through the physiology of the adrenals before explaining the different reasons for adrenal insufficiency with a particular focus on autoimmune primary adrenal insufficiency. We will give a clinical overview including diagnosis and current treatment, before giving an overview of the genetic causes including monogenetic reasons for adrenal insufficiency and the polygenic background and inheritance pattern in autoimmune adrenal insufficiency. We will then look at the autoimmune mechanisms underlying autoimmune adrenal insufficiency and how autoantibodies are important for diagnosis. We end with a discussion on how to move the field forward emphasizing on the clinical workup, early identification, and potential targeted treatment of autoimmune PAI.
Topics: Humans; Addison Disease; Adrenal Insufficiency; Adrenal Glands; Autoantibodies; Kidney
PubMed: 38027140
DOI: 10.3389/fendo.2023.1285901 -
Proceedings of the Royal Society of... Nov 1951
Topics: Addison Disease; Adrenal Insufficiency; Child; Humans; Hypoadrenocorticism, Familial; Infant
PubMed: 14900198
DOI: No ID Found -
PloS One 2013Addison's disease is a potentially life-threatening disorder, and prompt diagnosis, and introduction of steroid replacement has resulted in near normal life-expectancy....
BACKGROUND
Addison's disease is a potentially life-threatening disorder, and prompt diagnosis, and introduction of steroid replacement has resulted in near normal life-expectancy. There are limited data describing the clinical presentation of Addison's disease in South Africa. It is hypothesised that patients may present in advanced state of ill-health, compared to Western countries.
PATIENTS
A national database of patients was compiled from primary care, referral centres and private practices. 148 patients were enrolled (97 white, 34 mixed ancestry, 5 Asian and 12 black).
METHODS
Demographic and clinical data were elicited using questionnaires. Biochemical data were obtained from folder reviews and laboratory archived results.
RESULTS
The majority of the cohort was women (62%). The median and inter-quartile age range (IQR) of patients at enrolment was 46.0 (32.0-61.0) years, with a wide range from 2.8-88.0 years. The median and IQR age at initial diagnosis was 34.0 (20.0-45.0) years (range 0.02-77.0) years, indicating that at the time of enrolment, the patients, on average, were diagnosed with Addison's disease 12 years previously. Hyperpigmentation was observed in 76%, nausea and vomiting occurred in more than 40%, and weight loss was noted in 25%. Loss of consciousness as a presenting feature was recorded in 20%. with a 95% confidence interval [CI] of (14-28%) and shock occurred in 5% CI (1.5-8.5%). Case-finding was recorded at 3.1 per million.
CONCLUSIONS
The usual constellation of hyperpigmentation, nausea, vomiting and weight loss suggests Addison's disease, but a significant proportion present with an advanced state of ill-health and Addisonian crises. A lower prevalence rate, compared to Western countries is suggested.
Topics: Addison Disease; Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Hyperpigmentation; Male; Middle Aged; Nausea; Prevalence; Racial Groups; South Africa; Surveys and Questionnaires; Urban Population; Vomiting; Weight Loss
PubMed: 23308244
DOI: 10.1371/journal.pone.0053526