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Endocrine Oct 2021Genetically predisposed individuals may develop several autoimmune diseases-autoimmune polyendocrine syndromes (APS). APS types 2-4, are complex disorders, which combine...
PURPOSE
Genetically predisposed individuals may develop several autoimmune diseases-autoimmune polyendocrine syndromes (APS). APS types 2-4, are complex disorders, which combine various organ-specific autoimmune conditions. Recent reports support the considerable role of the BACH2 gene in immune cell differentiation and shifting the T-cell balance towards regulatory T-cells. BACH2 polymorphisms are associated with autoimmune disorders, including Addison's disease (AD), Graves' disease (GD), and probably type 1 diabetes (T1D). Our study was aimed to investigate the BACH2 variant, rs3757247, in endocrine autoimmunity in the Polish population.
METHODS
The analysis comprised 346 individuals with APS, 387 with T1D only, and 568 controls. Genotyping was performed using TaqMan chemistry.
RESULTS
APS type 2 was found in 219 individuals, type 3 in 102, and type 4 in 25 subjects. Overall, AD was diagnosed in 244 subjects, Hashimoto's thyroiditis-in 238, T1D-in 127, GD-in 58, vitiligo and chronic gastritis each in 40 patients, celiac disease-in 28, premature menopause in 18, and alopecia in 4 patients. Minor T allele at rs3757247 was found in 56.4% APS vs. 44.1% control alleles (OR 1.59; 95%CI: 1.30-1.95, p < 0.0001). The distribution of genotypes revealed excess TT homozygotes in the APS cohort (33.2 vs. 20.1% in controls, p < 0.0001). The frequencies of rs3757247 alleles and genotypes in T1D patients did not present significant differences vs. controls (p-values > 0.05).
CONCLUSIONS
These results provide evidence of the association between BACH2 polymorphism and polyglandular autoimmunity. Since carriers of rs3757247 display increased risk for additional autoimmune conditions, this variant could identify individuals prone to develop APS.
Topics: Addison Disease; Autoimmunity; Basic-Leucine Zipper Transcription Factors; Diabetes Mellitus, Type 1; Female; Humans; Polyendocrinopathies, Autoimmune; Polymorphism, Genetic
PubMed: 33966174
DOI: 10.1007/s12020-021-02743-9 -
Annales de Biologie Clinique Aug 2018Salivary cortisol assay, described for the first time almost forty years ago, has not been expanding until the last decade. Its simplicity, non-invasiveness and the easy... (Review)
Review
Salivary cortisol assay, described for the first time almost forty years ago, has not been expanding until the last decade. Its simplicity, non-invasiveness and the easy repetition of sampling make it an analytical matrix of interest. Since the publication of the recommendations of the American endocrinology society in 2008, salivary cortisol is recognized as one of the three main tests to screen for Cushing's syndrome. In addition, salivary cortisone, the major metabolite of salivary cortisol, still represents a severe potential interferent but could also be a complementary analyte for indications where evaluation of cortisol secretion is sought. Moreover, in the current context of practices and methods harmonization, the problem of lack of standardization presents also for salivary cortisol. This review briefly develops the three main tests of Cushing's syndrome screening to explain the reasons for integrating the saliva test into this screening. Then we will develop the variables that can influence salivary cortisol from a pre-analytic, physiopathological and finally analytical point of view.
Topics: Addison Disease; Circadian Rhythm; Cushing Syndrome; Humans; Hydrocortisone; Pre-Analytical Phase; Saliva; Specimen Handling
PubMed: 29952304
DOI: 10.1684/abc.2018.1355 -
Frontiers in Endocrinology 2022
Topics: Addison Disease; Adrenal Insufficiency; Causality; Humans
PubMed: 36105391
DOI: 10.3389/fendo.2022.995151 -
Proceedings of the Royal Society of... Oct 1967
Review
Topics: Addison Disease; Animals; Blood Cell Count; Bone Marrow; Bone Marrow Cells; Cell Differentiation; Growth Hormone; Guinea Pigs; Hematopoiesis; Hematopoietic System; Humans; Lymphocytes; Nutritional Physiological Phenomena; Thyroid Gland
PubMed: 4862233
DOI: No ID Found -
Postgraduate Medical Journal May 1970Vitiligo, a common skin condition, has been reported in association with thyroid disease, pernicious anaemia, carcinoma of the stomach, Addison's disease and diabetes...
Vitiligo, a common skin condition, has been reported in association with thyroid disease, pernicious anaemia, carcinoma of the stomach, Addison's disease and diabetes mellitus. Some subjects with vitiligo can be shown to possess circulating antibodies to thyroid gland, thyroglobulin, gastric parietal cells and adrenal gland, even in the absence of disease. Vitiligo is evidently another ‘skin-marker of internal disease’.
Topics: Addison Disease; Anemia, Pernicious; Diabetes Complications; Humans; Stomach Neoplasms; Thyroid Diseases; Vitiligo
PubMed: 5448375
DOI: 10.1136/pgmj.46.535.276 -
Frontiers in Endocrinology 2021Patients with primary adrenal insufficiency (PAI) suffer reduced quality of life (QoL), but comparisons with large-scale normative data are scarce. The clinical...
BACKGROUND
Patients with primary adrenal insufficiency (PAI) suffer reduced quality of life (QoL), but comparisons with large-scale normative data are scarce. The clinical characteristics associated with reduced QoL are largely unknown.
METHODS
Cross-sectional data on clinical characteristics and QoL scores from 494 patients were included. QoL was measured using RAND-36 (generic) and AddiQoL (-30 and -8, disease-specific). RAND-36 is reported as subdomain scores as well as physical (PCS) and metal (MCS) summary scores and compared with normative data.
RESULTS
Perception of physical role was consistently decreased across age groups in patients with PAI compared with normative data [75 (0-100) 100 (50-100), p<0.001]. Men with PAI reported significantly lower scores for social functioning [88 (75-100) 100 (75-100), p<0.001], as well as for vitality and physical role. In women, the greatest impairment was seen in physical role [50 (0-100) 100 (50-100), p<0.001], followed by social functioning, vitality, physical function, general health, mental health, and emotional role. Overall, better QoL was associated with male sex (AddiQoL-30: 89 ± 13 82 ± 13, p<0.002), younger age (e.g. 20-29 80-89 years: PCS 59 [50-62] 46 [37-53], p<0.001), autoimmune etiology [PCS: 53 (45-59) . 45 (38-54), p<0.001], and absence of autoimmune comorbidity [PCS: 54 (45-59) 50 (43-58), p<0.001]. There were no significant differences in QoL scores between different doses or dosing regimens of glucocorticoid or mineralocorticoid replacement.
CONCLUSION
QoL is reduced in patients with PAI, especially perception of physical role in women and social functioning in men. Among patients with PAI, female sex, higher age, non-autoimmune etiology, and autoimmune comorbidity was associated with lower QoL-scores.
Topics: Addison Disease; Adult; Aged; Comorbidity; Cross-Sectional Studies; Female; Follow-Up Studies; Health Status; Humans; Male; Middle Aged; Prognosis; Quality of Life; Sex Factors; Surveys and Questionnaires
PubMed: 34733237
DOI: 10.3389/fendo.2021.718660 -
Journal of Veterinary Internal Medicine Mar 2023Primary hypoadrenocorticism (PH) is rare in cats and knowledge about treatment is sparse.
BACKGROUND
Primary hypoadrenocorticism (PH) is rare in cats and knowledge about treatment is sparse.
OBJECTIVE
To describe cats with PH with a focus on long-term treatment.
ANIMALS
Eleven cats with naturally occurring PH.
METHODS
Descriptive case series with data on signalment, clinicopathological findings, adrenal width, and doses of desoxycorticosterone pivalate (DOCP) and prednisolone during a follow-up period of >12 months.
RESULTS
Cats ranged from 2 to 10 years (median 6.5); 6 cats were British Shorthair. Most common signs were reduced general condition and lethargy, anorexia, dehydration, obstipation, weakness, weight loss, and hypothermia. Adrenal glands on ultrasonography were judged small in 6. Eight cats could be followed for 14 to 70 months (median: 28). Two were started on DOCP doses ≥2.2 mg/kg (2.2; 2.5) and 6 < 2.2 mg/kg (1.5-2.0 mg/kg, median 1.8) q28 days. Both high-dose cats and 4 low-dose cats needed a dose increase. Desoxycorticosterone pivalate and prednisolone doses at the end of the follow-up period were 1.3 to 3.0 mg/kg (median: 2.3) and 0.08 to 0.5 mg/kg/day (median: 0.3), respectively.
CONCLUSIONS AND CLINICAL IMPORTANCE
Desoxycorticosterone pivalate and prednisolone requirements in cats were higher than what is currently used in dogs; thus, a DOCP starting dose of 2.2 mg/kg q28 days and a prednisolone maintenance dose of 0.3 mg/kg/day titrated to the individual need seems warranted. Small adrenal glands (width < 2.7 mm) on ultrasonography in a cat suspected of hypoadrenocorticism can be suggestive of the disease. The apparent predilection of British Shorthaired cats for PH should be further evaluated.
Topics: Cats; Animals; Dogs; Prednisolone; Dog Diseases; Adrenal Insufficiency; Desoxycorticosterone; Addison Disease; Cat Diseases
PubMed: 36809682
DOI: 10.1111/jvim.16658 -
Hormones (Athens, Greece) Jun 2022Autoimmune disease, including autoimmune thyroid disease, with uncharacteristic symptoms can be due to additional severe disease. We report a life-threatening debut of... (Review)
Review
BACKGROUND
Autoimmune disease, including autoimmune thyroid disease, with uncharacteristic symptoms can be due to additional severe disease. We report a life-threatening debut of autoimmune polyglandular syndrome type II (APS II) defined as Addison's disease combined with autoimmune diabetes and/or thyroid disease.
PATIENT FINDINGS
A 33-year-old male with newly diagnosed hypothyroidism was referred to a tertiary center due to fatigue and 20-kg rapid weight loss. Malignancy was excluded. After a gastroscopy, he developed Addison's crisis; he was admitted to our hospital and stabilized. Final diagnoses included Hashimoto's thyroiditis, Addison's disease, vitiligo, and pernicious anemia. Whole genome sequencing found no genetic variants associated with component diseases. Human leukocyte antigen typing revealed DR3/DR4 and DQ8/DQ2 heterozygosity associated with APS II. A patient with Hashimoto's thyroiditis and weight loss presented with Addison's crisis and was diagnosed with APS II.
CONCLUSIONS
Awareness of potential polyautoimmunity in clinical evaluation of patients with thyroid disease improves diagnosis and can be lifesaving.
Topics: Addison Disease; Adult; Hashimoto Disease; Humans; Hypothyroidism; Male; Polyendocrinopathies, Autoimmune; Thyroid Diseases; Weight Loss
PubMed: 35182386
DOI: 10.1007/s42000-021-00344-9 -
BMJ Case Reports Aug 2021
Topics: Addison Disease; Diagnosis, Differential; Humans; Hyperpigmentation
PubMed: 34404673
DOI: 10.1136/bcr-2021-245610 -
Proceedings of the Royal Society of... Apr 1954
Topics: Addison Disease; Adrenal Insufficiency; Goiter; Humans; Hypoadrenocorticism, Familial
PubMed: 13155529
DOI: No ID Found