Related Experiment Video
Updated: May 11, 2026
06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Apparent mineralocorticoid excess (AME) syndrome
1Department of Pediatrics, Pediatric Intensive Care Unit, Al-Jahra Hospital, Kuwait. dryparvez@gmail.com
Indian Pediatrics
|May 14, 2013
Summary
Apparent mineralocorticoid excess syndrome, a rare genetic disorder, results from 11beta-HSD2 enzyme deficiency. Early diagnosis and treatment are crucial for managing this inherited hypertension condition.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder.
- It stems from a deficiency in the 11b hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2).
Observation:
- Mutations in the 11beta-HSD2 gene impair enzymatic activity.
- This leads to cortisol excess and inappropriate mineralocorticoid receptor activation.
Findings:
- The study presents clinical and molecular data on two sisters diagnosed with AME syndrome.
- This highlights the genetic basis and clinical presentation of the disorder.
Implications:
- AME syndrome causes inherited hypertension, which can be fatal if untreated.
- Despite its severity, AME syndrome is a treatable condition with appropriate medical intervention.
Related Concept Videos
01:27Adrenal Gland Disorders
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...
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...
01:19Cushing Syndrome II: Pathophysiology
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 of the...
01:26Cushing Syndrome I: Introduction
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 syndrome.Exogenous...
01:24Nephrotic Syndrome I : Introduction
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
01:31Hormones of the Adrenal Glands
Adrenal hormones play a pivotal role in maintaining the body's electrolyte balance and orchestrating responses to stress, showcasing the intricate functions of the adrenal cortex and medulla.
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and corticosterone...
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and corticosterone...
01:28Antihypertensive Drugs: Potassium-Sparing Diuretics
Liddle syndrome is a genetically inherited form of hypertension characterized by the overactivity of epithelial sodium channels in the nephron, the functional unit of the kidney. This heightened activity leads to increased sodium reabsorption and excessive excretion of potassium. To counteract this, potassium-sparing diuretics such as amiloride are used. They function by blocking these sodium channels, thereby reducing the influx of sodium into the epithelial cells and minimizing the loss of...