Hypercortisolism is a severe endocrine disorder that leads to all types of metabolic disturbances. The most frequent symptom of hypercortisolism is a specific weight gain and body fat distribution - "cushingoid" obesity which clinically reflects the pathological changes in protein, carbohydrate and lipids metabolism. We provide a clinical case of a patient with Cushings disease. This clinical case represents challenges in the differential diagnosis of this rare endocrine disorder and metabolic syndrome, and specific approach in further evaluation and treatment of Cushing's disease that requires all the latest technology in this field to be employed.
The reported clinical case represents an example of characteristic traits in lipid metabolism and fat tissue deposition in hypercorticosolism.
Probable causes for fat mass expansion in glucocorticosteroid excess, its distinctive cushingoid distribution, role of
11β-HSD1 and glucocorticoid receptors and reversibility of specific abnormalities after correction of hypercortisolism are discussed in
the context of physiological and pathological aspects of glucocorticosteroid action.
Chronic fatigue syndrome is a disease of unexplained feeling of profound fatigue lasting for more than 6 months. This fatigue is
not relieved even after prolonged rest and is exacerbated after physical or mental work. More than 3000 scientific studies had proved that
chronic fatigue syndrome is not a form of depression or hypochondria. It is a real somatic illness that results in professional, social and
individual desadaptation. This article summarizes the contemporary etiological conceptions of this condition.
Despite active research involving familial pituitary adenomas and characterization of five hereditary syndromes, the genetic defects in more than 80 - 95% of patients remain not found. Besides, there is more than 25 cases of coexistence of pheochromocytomas and pituitary adenomas described in literature that up to date is not integrated in any syndrome; genetic defects of such coexistence also aren't defined. However it is supposed that in pituitary tumorigenesis, germline mutations of SDH can take part that is obviously important aspect of further investigation. Germline mutations of SDH were found in patients with different phenotypes of pituitary adenomas. Studying of mutations in genes SDHD, SDHB, SDHC, SDHA and their prevalence in patients with familial pituitary adenomas or with phenotypes of multiple endocrine neoplasia without mutations in MEN1, CDKN1B, PRKAR1A, AIP genes can provide clarity in a role of mutations in SDH in endocrine and in particular pituitary tumorigenesis.
Genetic aspects of familial isolated pituitary adenomas (FIPA) are expanding rapidly in the last few years. Around 20% of these FIPA families have been identified to have mutations within the aryl hydrocarbon receptor interacting protein (AIP) gene. The number of identified AIP-positive FIPA families is increasing all over the world.
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