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British Medical Journal (Clinical... Jul 1983
Topics: Addison Disease; Dihydrotestosterone; Female; Humans
PubMed: 6409260
DOI: 10.1136/bmj.287.6386.216-a -
Annals of Medicine May 2011Hyponatremia is a common electrolyte abnormality with the potential for significant morbidity and mortality. Endocrine disorders, including adrenal deficiency and... (Review)
Review
Hyponatremia is a common electrolyte abnormality with the potential for significant morbidity and mortality. Endocrine disorders, including adrenal deficiency and hypothyroidism, are uncommon causes of hyponatremia. Primary adrenal insufficiency (i.e. Addison's disease) may well be recognized by clear hall-marks of the disease, such as pigmentation, salt craving, hypotension, and concomitant hyperkalemia. Addison's disease is an important diagnosis not to be missed since the consequences can be grave. On the other hand, hypothyroidism and secondary adrenocortical insufficiency originating from diseases of the hypothalamus and/or pituitary (hypopituitarism) require a high index of suspicion, because the clinical signs can be quite subtle. This review focuses on clinical and pathophysiological aspects of hyponatremia due to endocrine disorders.
Topics: Addison Disease; Adrenal Insufficiency; Animals; Endocrine System Diseases; Humans; Hyponatremia; Hypopituitarism; Hypothyroidism
PubMed: 20964584
DOI: 10.3109/07853890.2010.530680 -
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 -
The Journal of Clinical Endocrinology... Feb 2010Patients with Addison's disease reproducibly self-report impairment in specific dimensions of general well-being questionnaires, suggesting particular deficiencies in...
CONTEXT
Patients with Addison's disease reproducibly self-report impairment in specific dimensions of general well-being questionnaires, suggesting particular deficiencies in health-related quality-of-life (HRQoL).
OBJECTIVE
We sought to develop an Addison's disease-specific questionnaire (AddiQoL) that could better quantify altered well-being and treatment effects. Design, Setting, Patients, Intervention, and Outcomes: We reviewed the literature to identify HRQoL issues in Addison's disease and interviewed patients and their partners in-depth to explore various symptom domains. A list of items was generated, and nine expert clinicians and five expert patients assessed the list for impact and clarity. A preliminary questionnaire was presented to 100 Addison's outpatients; the number of items was reduced after analysis of the distribution of the responses. The final questionnaire responses were assessed by Cronbach's alpha and Rasch analysis.
RESULTS AND INTERPRETATION
Published studies of HRQoL in Addison's disease indicated reduced vitality and general health perception and limitations in physical and emotional functioning. In-depth interviews of 14 patients and seven partners emphasized the impact of the disease on the emotional domain. Seventy HRQoL items were generated; after the expert consultation process and pretesting in 100 patients, the number of items was reduced to 36. Eighty-six patients completed the final questionnaire; the responses showed high internal consistency with Cronbach's alpha 0.95 and Person Separation Index 0.94 (Rasch analysis).
CONCLUSIONS
We envisage AddiQoL having utility in trials of hormone replacement and management of patients with Addison's disease, analogous to similar questionnaires in GH deficiency (AGHDA) and acromegaly (AcroQoL).
Topics: Addison Disease; Adult; Aged; Female; Humans; Male; Middle Aged; Quality of Life; Surveys and Questionnaires
PubMed: 20016050
DOI: 10.1210/jc.2009-1711 -
Italian Journal of Pediatrics Jul 2023Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune...
BACKGROUND
Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune adrenalitis is a rare condition amongst PAI's main aetiologies and could present as an isolated disorder or as a component of polyglandular syndromes, particularly type 2. As a matter of fact, autoimmune polyglandular syndrome (APS) type 2 consists of the association between autoimmune Addison's disease, type 1 diabetes mellitus and/or Hashimoto's disease.
CASE PRESENTATION
We report the case of an 8-year-old girl who presented Addison's disease and autoimmune thyroiditis at an early stage of life. The initial course of the disease was characterized by numerous crises of adrenal insufficiency, subsequently the treatment was adjusted in a tertiary hospital with improvement of disease control.
CONCLUSIONS
APS type 2 is a rare condition during childhood, probably because it may remain latent for long periods before resulting in the overt disease. We recommend an early detection of APS type 2 and an adequate treatment of adrenal insufficiency in a tertiary hospital. Moreover, we underline the importance of a regular follow-up in patients with autoimmune diseases, since unrevealed and incomplete forms are frequent, especially in childhood.
Topics: Female; Humans; Child; Adult; Addison Disease; Syndrome; Hashimoto Disease; Diabetes Mellitus, Type 1; Polyendocrinopathies, Autoimmune; Rare Diseases; Diabetes Mellitus, Type 2
PubMed: 37516895
DOI: 10.1186/s13052-023-01502-y -
American Journal of Physiology.... Jul 2020Glucocorticoids belong to the superfamily of steroid hormones that are synthesized from the common precursor cholesterol. Adrenal gland-derived glucocorticoids, e.g.,... (Review)
Review
Glucocorticoids belong to the superfamily of steroid hormones that are synthesized from the common precursor cholesterol. Adrenal gland-derived glucocorticoids, e.g., cortisol in humans and corticosterone in rodents, contribute to various processes essential for normal daily life. Glucocorticoid deficiency, also referred to as primary adrenal insufficiency, therefore, often becomes evident early in life and can be present with hypoglycemia, a failure to thrive, recurrent development of infections, and neurological problems, such as seizures and coma. The majority of congenital primary adrenal insufficiency cases are caused by deleterious mutations in genes involved in the intracellular mobilization of cholesterol and the subsequent conversion of cholesterol into glucocorticoids. A significant number of glucocorticoid deficiency cases, however, cannot be explained by known genetic variations. This perspective highlights existing literature regarding the importance of lipoprotein-derived cholesterol acquisition through scavenger receptor class B, type I (SR-BI/SCARB1) for the maintenance of an optimal adrenal glucocorticoid function in mice and humans. On the basis of the reviewed findings, it is suggested that the SCARB1 gene should be included in the standard glucocorticoid deficiency genetic screening panel to ) facilitate knowledge development on the relative contribution of SR-BI-mediated cholesterol acquisition to steroid hormone synthesis in humans and ) open up the possibility to reclassify glucocorticoid deficiency patients without a currently known genetic cause for concomitant treatment optimization.
Topics: Addison Disease; Animals; Cholesterol; Cholesterol Esters; Genetic Testing; Glucocorticoids; Humans; Lipoproteins, HDL; Mice; Mice, Knockout; Scavenger Receptors, Class B
PubMed: 32369415
DOI: 10.1152/ajpendo.00069.2020 -
Journal of Negative Results in... Dec 2007A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and... (Comparative Study)
Comparative Study
BACKGROUND
A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite. Besides the typical features of Turner syndrome (short stature, failure to enter puberty spontaneously and infertility due to ovarian insufficiency) ear problems are common. Otitis media and a progressive sensorineural hearing disorder are commonly seen. In the normal population there are known inner ear disorders related to autoimmune diseases. The aim of this study was to investigate patients with Turner syndrome regarding autoantibodies connected to the autoimmune disorders; autoimmune polyendocrine syndrome type I and II and Addison's disease, to screen for overlapping profile of autoantibodies. Blood samples from 110 Turner patients (7-65 years) were investigated using in vitro transcription, translation and immunoprecipitation techniques regarding autoantibodies connected to autoimmune polyendocrine syndrome type I and II and Addison's disease (21-hydroxylase, 17alpha-hydroxylase, side-chain cleavage enzyme, aromatic L-amino acid decarboxylase, tyrosine hydroxylase and tryptophan hydroxylase).
RESULTS
The autoantibodies investigated were not overrepresented among the Turner patients.
CONCLUSION
The autoimmune disorders associated with Turner syndrome do not seem to be of the same origin as Addison's disease, the type I or II autoimmune polyendocrine syndrome.
Topics: Addison Disease; Adolescent; Adult; Aged; Autoantibodies; Child; Female; Humans; Middle Aged; Polyendocrinopathies, Autoimmune; Turner Syndrome
PubMed: 18088406
DOI: 10.1186/1477-5751-6-10 -
BMC Endocrine Disorders Oct 2022Addison's disease is primary adrenal dysfunction and is characterized by decrease of cortisol level and increase of adrenocorticotropic hormone (ACTH) level. It is known...
Addison's disease triggered by infection with mycobacterium abscessus, but not by adrenal tuberculosis or MAC pulmonary disease, in a subject with type 2 diabetes mellitus: case report.
BACKGROUND
Addison's disease is primary adrenal dysfunction and is characterized by decrease of cortisol level and increase of adrenocorticotropic hormone (ACTH) level. It is known that infection is one of main causes of Addison's disease. Among various infections, tuberculous infection accounts for the majority of them. Recently the number of subjects with non-tuberculous mycobacterial infection has been increased, and the infection can also bring about Addison's disease. Mycobacterium avium complex (MAC) pulmonary disease accounts for the majority of non-tuberculous mycobacterial infection.
CASE PRESENTATION
An 83-year-old female was suspected of having adrenal failure in our outpatient care and hospitalized in our institution. There was pigmentation in her face, hands and legs, especially in auricle and nail beds in her hands and legs. In rapid ACTH load test (0.25 mg of 1-24 ACTH), cortisol level was not increased at all. An abdominal computed tomography (CT) showed swelling of both adrenal glands accompanied by calcification. QuantiFERON test was negative and mycobacterium tuberculosis complex was negative in PCR test using bronchial lung lavage fluid. These data ruled out the possibility of adrenal tuberculosis. It is known that MAC pulmonary disease accounts for the majority of non-tuberculous mycobacterial infection. In this subject, however, anti-MAC antibody was negative and MAC-related bacteria were not detected in PCR test using bronchial lung lavage fluid. These data ruled out the possibility of MAC pulmonary disease. Mycobacterium abscessus (Mab) was positive in bronchial lung lavage fluid culture. Based on these data, we diagnosed this subject with Addison's disease triggered by infection with mycobacterium abscessus, but not by adrenal tuberculous or MAC pulmonary disease. Decreased sodium level and increased eosinophil number were normalized and appetite loss was markedly mitigated after starting hydrocortisone therapy. A chest CT which was taken about 6 months later showed drastic reduction of consolidation in the upper lobe of the left lung although calcification in the adrenal gland was still observed.
CONCLUSIONS
We should bear in mind the possibility of Addison's disease triggered by another type of infection rather than adrenal tuberculosis or MAC pulmonary disease.
Topics: Humans; Female; Aged, 80 and over; Addison Disease; Mycobacterium avium Complex; Mycobacterium abscessus; Hydrocortisone; Diabetes Mellitus, Type 2; Tuberculosis; Lung Diseases; Adrenocorticotropic Hormone; Sodium
PubMed: 36274124
DOI: 10.1186/s12902-022-01178-1 -
The British Journal of General Practice... Sep 2015
Topics: Addison Disease; Diagnosis, Differential; Disease Management; Glucocorticoids; Humans; Primary Health Care
PubMed: 26324491
DOI: 10.3399/bjgp15X686713 -
British Medical Journal Nov 1971
Topics: Addison Disease; Asthma; Automobile Driving; Death, Sudden; Humans; Male; Physical Exertion
PubMed: 5126967
DOI: 10.1136/bmj.4.5786.560-f