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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 -
Dermatologic Clinics Oct 2020Oral pigmented lesions have a wide range of clinical presentations, some of which correlate with cutaneous pigmented lesions. This article highlights these correlates... (Review)
Review
Oral pigmented lesions have a wide range of clinical presentations, some of which correlate with cutaneous pigmented lesions. This article highlights these correlates and underscores important differences that can potentially have clinical impact. Moreover, given a nonspecific presentation of an oral pigmented lesion, the article provides a reference to aid clinicians with differential diagnoses based on clinical features. This article is an overview of pigmented lesions of the oral cavity, including localized reactive pigmented lesions, neoplastic pigmented lesions, and pigmented lesions as sequelae of a systemic disease.
Topics: Addison Disease; Dental Amalgam; Foreign Bodies; Hemochromatosis; Humans; Hyperpigmentation; Lead Poisoning; Melanoma; Melanosis; Mouth Diseases; Mouth Neoplasms; Neuroectodermal Tumor, Melanotic; Neurofibromatoses; Nevus, Pigmented; Peutz-Jeghers Syndrome; Pituitary ACTH Hypersecretion; Sarcoma, Kaposi; Tattooing
PubMed: 32892857
DOI: 10.1016/j.det.2020.05.009 -
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 -
Clinical Medicine (London, England) Mar 2021Use of immune checkpoint inhibitors in cancer treatment has increased vastly over the past decade, as both single and combination agent therapies. While having a... (Review)
Review
Use of immune checkpoint inhibitors in cancer treatment has increased vastly over the past decade, as both single and combination agent therapies. While having a positive impact on survival rates, adverse effects have been noted, with endocrine effects in around 10% of patients. Thyroid disease and hypophysitis are the most commonly encountered, with diabetes mellitus and primary adrenal insufficiency also reported, as well as more rare endocrinopathies. Patient and clinician education to raise awareness of these effects, as well as regular monitoring to enable early recognition, diagnosis and prompt treatment of the immune side effects, are key. In this review, we discuss the aetiology, presentation and management of the endocrine complications of immunotherapies that are relevant to the general physician, as well as highlighting important areas where further research is still needed.
Topics: Addison Disease; Drug-Related Side Effects and Adverse Reactions; Endocrine System Diseases; Humans; Hypophysitis; Immunotherapy; Neoplasms; Thyroid Diseases
PubMed: 33762389
DOI: 10.7861/clinmed.2020-0827 -
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 -
The New England Journal of Medicine May 2021
Topics: Addison Disease; Humans; Hyperpigmentation; Male; Middle Aged; Skin
PubMed: 33951364
DOI: 10.1056/NEJMicm2018221 -
European Journal of Case Reports in... 2021Cardiac tamponade is a life-threatening medical emergency and can arise in many clinical situations. We present the case of a 59-year-old man with adrenoleukodystrophy...
UNLABELLED
Cardiac tamponade is a life-threatening medical emergency and can arise in many clinical situations. We present the case of a 59-year-old man with adrenoleukodystrophy and Addison's disease who was admitted to the emergency department with severe abdominal pain that turned out to be cardiac tamponade of unknown aetiology. An association between cardiac tamponade and Addison's disease has been reported in the literature, so this aetiology should be considered in the differential diagnosis for patients presenting with unexplained cardiac tamponade.
LEARNING POINTS
Cardiac tamponade can be associated with Addison's disease in rare cases.A high level of suspicion is essential, as it can mimic many medical conditions.Emergent pericardiocentesis is the required treatment.
PubMed: 34377698
DOI: 10.12890/2021_002691