-
Acta Bio-medica : Atenei Parmensis Jan 2018Addison's disease (AD) is a rare endocrine condition related to adrenal insufficiency. Autoimmune adrenalitis is commonly associated with autoimmune diseases. Autoimmune...
Addison's disease (AD) is a rare endocrine condition related to adrenal insufficiency. Autoimmune adrenalitis is commonly associated with autoimmune diseases. Autoimmune Addison's Disease (AAD) describes Autoimmune Polyendocrine Syndrome (APS) in 60% of patients with an important immunitary pathogenesis imprinting. We describes a case of Autoimmune Polyendocrine Syndrome charachterize by adrenal insufficiency and thyroid disease (Schmidt Syndrome). In this case report, Addison's disease had a slow onset in absence of the typical weight loss. In our considerations this is due to the concomitant hypothyroidism that masked some typical signs and also limited acute presentation.
Topics: Aged; Female; Humans; Hypothyroidism; Polyendocrinopathies, Autoimmune
PubMed: 29350667
DOI: 10.23750/abm.v88i4.5117 -
Der Pathologe May 2016Inflammation of the adrenal glands is caused by autoimmunopathies or infections and can induce adrenal insufficiency. Autoimmune lymphocytic adrenalitis is often... (Review)
Review
Inflammation of the adrenal glands is caused by autoimmunopathies or infections and can induce adrenal insufficiency. Autoimmune lymphocytic adrenalitis is often combined with other autoimmune diseases and the most frequent cause of Addison's disease; however, it only becomes clinically apparent when more than 90 % of the adrenal cortex has been destroyed. Histological features are characterized by lymphoplasmacytic inflammation leading to an increased destruction of adrenocortical tissue but less severe courses can also occur. The second most frequent form of adrenalitis is adrenal tuberculosis, showing typical granulomatous findings that are nearly always caused by spreading from a tuberculous pulmonary focus. Other bacterial as well as viral infections, such as Epstein-Barr virus (EBV), cytomegalovirus (CMV) and others, generally affect the adrenal glands only in patients with immunodeficiency disorders. In these infections, the adrenal cortex and medulla are frequently involved to roughly the same extent. Although surgical specimens from inflammatory adrenal lesions are extremely rare, the various forms of adrenalitis play an important role in the post-mortem examination of the adrenal glands for clarification of unclear causes of death (e.g. death during an Addisonian crisis).
Topics: Addison Disease; Adrenal Cortex; Adrenal Gland Diseases; Adrenal Gland Neoplasms; Adrenal Glands; Adrenal Medulla; Adrenalectomy; Adult; Autoimmune Diseases; Bacterial Infections; Child; HIV Infections; Humans; Immunoglobulin G; Inflammation; Lymphocytes; Opportunistic Infections; Tuberculosis
PubMed: 27099224
DOI: 10.1007/s00292-016-0163-y -
Der Internist Oct 2017Patients with chronic adrenal insufficiency suffer from reduced quality of life and increased mortality. An association between mortality and adrenal crisis is assumed.... (Review)
Review
Patients with chronic adrenal insufficiency suffer from reduced quality of life and increased mortality. An association between mortality and adrenal crisis is assumed. The frequency of adrenal crisis is about 8/100 patient years. The main causes are infectious disease. Pathophysiology is poorly understood to date. An association with an exaggerated inflammatory response due to a lack of glucocorticoid modulation as well as mineralocorticoid deficiency and diminished adrenomedullary function are discussed. The therapy of adrenal crisis includes prompt parenteral administration of hydrocortisone combined with isotonic saline. To prevent adrenal crisis, patients are equipped with an emergency card and set and educated in glucocorticoid dose adjustment.
Topics: Addison Disease; Adrenal Cortex; Adrenal Insufficiency; Emergencies; Humans; Hydrocortisone; Reference Values; Risk Factors; Saline Solution
PubMed: 28815318
DOI: 10.1007/s00108-017-0307-z -
Cerebral Cortex (New York, N.Y. : 1991) Apr 2023Long-term disturbances in cortisol levels might affect brain structure in individuals with autoimmune Addison's disease (AAD). This study investigated gray and white...
Long-term disturbances in cortisol levels might affect brain structure in individuals with autoimmune Addison's disease (AAD). This study investigated gray and white matter brain structure in a cohort of young adults with AAD. T1- and diffusion-weighted images were acquired for 52 individuals with AAD and 70 healthy controls, aged 19-43 years, using magnetic resonance imaging. Groups were compared on cortical thickness, surface area, cortical gray matter volume, subcortical volume (FreeSurfer), and white matter microstructure (FSL tract-based spatial statistics). Individuals with AAD had 4.3% smaller total brain volume. Correcting for head size, we did not find any regional structural differences, apart from reduced volume of the right superior parietal cortex in males with AAD. Within the patient group, a higher glucocorticoid (GC) replacement dose was associated with smaller total brain volume and smaller volume of the left lingual gyrus, left rostral anterior cingulate cortex, and right supramarginal gyrus. With the exception of smaller total brain volume and potential sensitivity of the parietal cortex to GC disturbances in men, brain structure seems relatively unaffected in young adults with AAD. However, the association between GC replacement dose and reduced brain volume may be reason for concern and requires follow-up study.
Topics: Male; Young Adult; Humans; Addison Disease; Follow-Up Studies; Brain; Gray Matter; Magnetic Resonance Imaging
PubMed: 36227196
DOI: 10.1093/cercor/bhac389 -
Frontiers in Endocrinology 2021Sleep is a critical biological process, essential for cognitive well-being. Neuroscientific literature suggests there are mechanistic relations between sleep disruption... (Review)
Review
Sleep is a critical biological process, essential for cognitive well-being. Neuroscientific literature suggests there are mechanistic relations between sleep disruption and memory deficits, and that varying concentrations of cortisol may play an important role in mediating those relations. Patients with Addison's disease (AD) experience consistent and predictable periods of sub- and supra-physiological cortisol concentrations due to lifelong glucocorticoid replacement therapy, and they frequently report disrupted sleep and impaired memory. These disruptions and impairments may be related to the failure of replacement regimens to restore a normal circadian rhythm of cortisol secretion. Available data provides support for existing theoretical frameworks which postulate that in AD and other neuroendocrine, neurological, or psychiatric disorders, disrupted sleep is an important biological mechanism that underlies, at least partially, the memory impairments that patients frequently report experiencing. Given the literature linking sleep disruption and cognitive impairment in AD, future initiatives should aim to improve patients' cognitive performance (and, indeed, their overall quality of life) by prioritizing and optimizing sleep. This review summarizes the literature on sleep and cognition in AD, and the role that cortisol concentrations play in the relationship between the two.
Topics: Addison Disease; Cognition; Humans; Hydrocortisone; Memory Disorders; Quality of Life; Risk Factors; Signal Transduction; Sleep
PubMed: 34512546
DOI: 10.3389/fendo.2021.694046 -
Journal of the College of Physicians... Oct 2020To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children. (Observational Study)
Observational Study
OBJECTIVE
To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children.
STUDY DESIGN
Observational study.
PLACE AND DURATION OF STUDY
Department of Diabetes and Endocrinology, National Institute of Child Health, Karachi, Pakistan, from 2015 to 2019.
METHODOLOGY
Sixty-three children of Addison's disease were enrolled in the study, who have visited and facilitated from the services of National Institute of Child Health from urban and rural region of the Sindh province. Diagnosis were made through biochemical analysis and detailed examination of acute and chronic symptoms. Study was initiated after taking the approval from Institutional Review Board. Moreover, written informed consents were also taken from each of the study participant.
RESULTS
There were 36 boys and 27 girls with a mean age at diagnosis of 3.92 and 4.96 years, respectively. Twelve patients were presented with an adrenal crisis following an acute illness. All of them had hyponatraemia; however, 10 had a hyperkalaemia and 8 had been reported with hypoglycaemia. Increased skin pigmentation was observed in 45 children with other identifiable features including weight loss, lethargy, and poor response in activities. Moreover 15 of them were identified with associated disorder (autoimmune polyendocrinopattay syndrome (APS), Allgrove or triple A syndrome, and adrenoleukodystrophy). Conclusion: Typical and atypical presentations of Addison's disease in children of Pakistani population are defined in this study which may assist in better management of Addison's patients. Key Words: Adrenal crisis, Hyponatremia, Hyperkalemia, APS, Allgrove, Adrenoleukodystrophy.
Topics: Addison Disease; Child; Female; Humans; Hyperkalemia; Hypoglycemia; Hyponatremia; Male; Pakistan
PubMed: 33143829
DOI: 10.29271/jcpsp.2020.10.1086 -
Frontiers in Endocrinology 2023X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters... (Review)
Review
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). According to population studies, X-ALD has an estimated birth prevalence of 1 in 17.000 subjects (considering both hemizygous males and heterozygous females), and there is no evidence that this prevalence varies among regions or ethnic groups. ALDP deficiency results in a defective peroxisomal β-oxidation of very long chain fatty acids (VLCFA). As a consequence of this metabolic abnormality, VLCFAs accumulate in nervous system (brain white matter and spinal cord), testis and adrenal cortex. All X-ALD affected patients carry a mutation on the ABCD1 gene. Nevertheless, patients with a defect on the ABCD1 gene can have a dramatic difference in the clinical presentation of the disease. In fact, X-ALD can vary from the most severe cerebral paediatric form (CerALD), to adult adrenomyeloneuropathy (AMN), Addison-only and asymptomatic forms. Primary adrenal insufficiency (PAI) is one of the main features of X-ALD, with a prevalence of 70% in ALD/AMN patients and 5% in female carriers. The pathogenesis of X-ALD related PAI is still unclear, even if a few published data suggests a defective adrenal response to ACTH, related to VLCFA accumulation with progressive disruption of adrenal cell membrane function and ACTH receptor activity. The reason why PAI develops only in a proportion of ALD/AMN patients remains incompletely understood. A growing consensus supports VLCFA assessment in all male children presenting with PAI, as early diagnosis and start of therapy may be essential for X-ALD patients. Children and adults with PAI require individualized glucocorticoid replacement therapy, while mineralocorticoid therapy is needed only in a few cases after consideration of hormonal and electrolytes status. Novel approaches, such as prolonged release glucocorticoids, offer potential benefit in optimizing hormonal replacement for X-ALD-related PAI. Although the association between PAI and X-ALD has been observed in clinical practice, the underlying mechanisms remain poorly understood. This paper aims to explore the multifaceted relationship between PAI and X-ALD, shedding light on shared pathophysiology, clinical manifestations, and potential therapeutic interventions.
Topics: Adult; Humans; Male; Female; Child; Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Addison Disease; Fatty Acids; Adrenal Cortex; Glucocorticoids
PubMed: 38034003
DOI: 10.3389/fendo.2023.1309053 -
Lakartidningen Jan 2022
Topics: Addison Disease; Humans
PubMed: 35019146
DOI: No ID Found -
The Medico-legal Journal Sep 2022In 1877 Harriet Staunton died in Penge, Kent, and four members of her family were convicted of her murder by malicious starvation. The defence attempted to show that she...
In 1877 Harriet Staunton died in Penge, Kent, and four members of her family were convicted of her murder by malicious starvation. The defence attempted to show that she had died from tuberculous meningitis, but reappraisal of the evidence leads to the conclusion that she died from tuberculous Addison's disease and that the defendants were wrongly convicted.
Topics: Addison Disease; Female; Humans; Tuberculosis, Endocrine
PubMed: 35695252
DOI: 10.1177/00258172221096635 -
Frontiers in Immunology 2019Annexin-A1 (ANXA1) was first discovered in the early 1980's as a protein, which mediates (some of the) anti-inflammatory effects of glucocorticoids. Subsequently, the... (Review)
Review
Annexin-A1 (ANXA1) was first discovered in the early 1980's as a protein, which mediates (some of the) anti-inflammatory effects of glucocorticoids. Subsequently, the role of ANXA1 in inflammation has been extensively studied. The biology of ANXA1 is complex and it has many different roles in both health and disease. Its effects as a potent endogenous anti-inflammatory mediator are well-described in both acute and chronic inflammation and its role in activating the pro-resolution phase receptor, FPR2, has been described and is now being exploited for therapeutic benefit. In the present mini review, we will endeavor to give an overview of ANXA1 biology in relation to inflammation and functions that mediate pro-resolution that are independent of glucocorticoid induction. We will focus on the role of ANXA1 in diseases with a large inflammatory component focusing on diabetes and microvascular disease. Finally, we will explore the possibility of exploiting ANXA1 as a novel therapeutic target in diabetes and the treatment of microvascular disease.
Topics: Addison Disease; Animals; Annexin A1; Cushing Syndrome; Diabetes Mellitus; Glucocorticoids; Humans; Inflammation; Receptors, Formyl Peptide; Receptors, Lipoxin; Vascular Diseases
PubMed: 31114582
DOI: 10.3389/fimmu.2019.00938