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Synchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.
Eur J Endocrinol
November 2024
Department of Pediatric Surgery and Urology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149 Rue de Sèvres, 75015 Paris, France.
Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
View Article and Find Full Text PDFAdrenocortical carcinoma with circulating tumor DNA analysis at post-operative recurrence: a case report with review of literature.
Endocr J
November 2024
Department of Health Promotion and Medicine of the Future, Graduate School of Medical Sciences, Kanazawa University, Ishikawa 920-8641, Japan.
Recently, the usefulness of circulating tumor DNA (ctDNA) analysis in various malignancies has been reported. However, reports on ctDNA analysis in adrenocortical carcinoma (ACC) are few. Therefore, this study aimed to examine the detectability of genetic mutations in ctDNA and the association between ctDNA allelic ratio and disease progression in a patient with post-operative recurrence of ACC.
View Article and Find Full Text PDFAdrenocortical insufficiency after bilateral adrenal hemorrhage due to anticoagulation and chronic immunothrombocytopenia.
Endocrinol Diabetes Metab Case Rep
October 2024
Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.
Article Synopsis
- - Adrenocortical insufficiency is a serious condition caused by a lack of glucocorticoids and/or mineralocorticoids from the adrenal cortex, leading to life-threatening adrenal crises, requiring immediate hydrocortisone treatment.
- - Symptoms like low blood pressure, weight loss, and fatigue are often vague, causing delays in diagnosis; the case study involves a 43-year-old woman who experienced adrenal insufficiency due to bleeding in her adrenal glands while also having immune thrombocytopenia (ITP).
- - Proper diagnosis is crucial, especially in patients with bleeding risk factors, and treatment typically starts with high doses of hydrocortisone and possibly fludrocortisone, which can later be adjusted as
Genetic analysis of the X-linked Adrenoleukodystrophy in uncovers a role in Peroxisomal dynamics.
bioRxiv
September 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Article Synopsis
- X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder marked by a mutation in a gene that causes the buildup of very long-chain fatty acids (VLCFAs) and leads to a range of symptoms, from early childhood neuroinflammatory disorders in some males to chronic issues in adult males and female carriers.
- Nearly all male patients show signs of adrenal gland failure, with the age of onset varying and sometimes being the first sign of the disease.
- Studies in fruit flies reveal that knocking down the fly version of the affected gene leads to VLCFA accumulation and other defects, while overexpressing the human version of the gene may inhibit the creation of peroxisomes, suggesting a
Glucocorticoid treatment increases cholesterol availability during critical illness: effect on adrenal and muscle function.
Crit Care
September 2024
Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven, Herestraat 49, O&N1 Box 503, 3000, Leuven, Belgium.
Background: Hypocholesterolemia hallmarks critical illness though the underlying pathophysiology is incompletely understood. As low circulating cholesterol levels could partly be due to an increased conversion to cortisol/corticosterone, we hypothesized that glucocorticoid treatment, via reduced de novo adrenal cortisol/corticosterone synthesis, might improve cholesterol availability and as such affect adrenal gland and skeletal muscle function.
Methods: In a matched set of prolonged critically ill patients (n = 324) included in the EPaNIC RCT, a secondary analysis was performed to assess the association between glucocorticoid treatment and plasma cholesterol from ICU admission to day five.
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