Phenotype of Cushing's disease: symptoms and causes

Describe

Fat accumulation in the centre

Obesity in the central region gradually increases including the face, neck, chest, and abdomen. Structures and organs in the body are also affected.

Moon-shaped face

A round, red face is caused by fat accumulation in the temporal regions.

Humpback 

Move between the nape and the lower corner of the shoulder blades.

Deposition of fat in the upper clavicle has also been linked to central obesity.

Figure. Fat accumulation in the centre, moon-shaped surface; stretch marks.

Figure. The central mechanism of obesity in Cushing's syndrome

Causes

Cushing's syndrome.

Mechanism of fat accumulation in the central region

Central fat accumulation reflects the accumulation of fat in the abdominal organs, not subcutaneous fat.

Glucocorticoids have been shown to modulate fat distribution, stimulating adipose tissue differentiation into mature adipose cells.

Several studies have shown that certain types of fat, including adenocarcinoma (but not subcutaneous), have the ability to convert inactive cortisone into the active form cortisol thanks to an enzyme, 11B-HSD1. Insulin and cortisol will increase levels of this enzyme, thereby increasing cortisol production.

As a result, long-term exposure to glucocorticoids can increase cortisol production from choroid adipocytes, causing the differentiation of many other fat cells to become adult fat cells.

The cause of the accumulation of fat on the face (moon-shaped face) and the back of the neck (camel hump) is not clear.

Meaning

Central obesity is considered the most common symptom, appearing in about 90% of patients, according to some documents.

Moon-shaped faces were found in 67–100% of patients, with 98% sensitivity and 41% specificity for Cushing's syndrome.

Camel goitre can be found in other diseases, including AIDS and systemic obesity, and it is not specific to Cushing's syndrome.

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