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Adrenal Gland Disorders01:27

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Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
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Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features...
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Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the...
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The adrenal or supra-renal glands, situated above the kidneys and aligned with the twelfth rib, are paired pyramid-shaped structures crucial for the body's stress response. During stress, these glands secrete hormones vital for adaptive physiological reactions.
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Cellular Adaptation III: Hyperplasia01:26

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Hyperplasia is an increase in the number of cells in a tissue or organ due to enhanced cell division. It is an adaptive, controlled response to stimuli such as injury, hormones, or stress, involving mitosis to produce genetically identical cells and support tissue repair and regeneration.Tissue CapacityCertain tissues, including the epidermis, intestinal epithelium, bone marrow, and fibroblasts, have a high potential for hyperplasia. Others, such as bone, cartilage, and smooth muscle, show...
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Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH...
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Primary bilateral macronodular adrenal hyperplasia.

Agostino De Venanzi1, Guilherme Asmar Alencar, Isabelle Bourdeau

  • 1aDivision of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal (CRCHUM), Université de Montréal, Montreal, Quebec H2W 1T8, Canada bUnidade de Suprarrenal, Disciplina de Endocrinologia e Metabologia, Laboratório de Hormônios e Genética Molecular LIM42, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil.

Current Opinion in Endocrinology, Diabetes, and Obesity
|April 18, 2014
PubMed
Summary

Primary bilateral macronodular adrenal hyperplasia, a rare cause of Cushing's syndrome, is increasingly recognized as genetically driven. New insights into its pathophysiology and genetics are paving the way for earlier diagnosis and novel therapeutic strategies.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pathophysiology

Background:

  • Primary bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing's syndrome.
  • Often misdiagnosed as adrenal incidentalomas with subclinical cortisol production.

Purpose of the Study:

  • To summarize recent advancements in the epidemiology, diagnosis, genetics, pathophysiology, and treatment of BMAH.

Main Methods:

  • Review of recent publications on BMAH.
  • Analysis of genetic findings, including germline and somatic mutations.
  • Investigation of ectopic adrenocortical hormone production and receptor regulation.

Main Results:

  • Germline and somatic mutations in the armadillo repeat containing 5 gene identified in familial and sporadic cases.
  • Ectopic adrenocorticotropic hormone production in BMAH tissues linked to aberrant hormone receptors.
  • Updated medical and surgical treatment options available.

Conclusions:

  • BMAH is more frequently genetically determined than previously thought.
  • The term 'adrenocorticotropic hormone-independent macronodular adrenal hyperplasia' is now considered inappropriate.
  • The disease should be renamed primary bilateral macronodular adrenal hyperplasia.