ACTA ENDOCRINOLOGICA (BUC)

The development of cancer in humans involves genetic and epigenetic changes that\r\nlead to cell cycle progression, inhibition of apoptosis, cell immortalisation, angiogenesis and\r\nthe ability to metastasise. One signalling pathway common to these events is the activation\r\nof phosphatidylinositol-3-kinase (PI3K) that affects downstream molecules involved in\r\nmalignant transformation. The article reviews the present data on the PI3K signalling, its\r\nderegulation in endocrine tumours, and new therapeutic strategies targeting this pathway in\r\nhuman neoplasia.

Endogenous Cushing’s syndrome is rare, with an incidence of 0.7–2.4 per a million people a year. Clinical presentation of Cushing syndrome can be pleomorphic, and establishing diagnosis can be difficult. Early recognition and rapid control of hypercortisolaemia are necessary to decrease morbidity and mortality in these patients. We report a series of 6 endogenous Cushing’s syndromes of different etiologies (4 Cushing’s disease and 2 adrenal Cushing’s syndrome) assessed in our endocrine department over a decade (2009-2019). In order to highlight the diversity of clinical forms, diagnostic tools and specific management of this condition we labelled each case suggestively: the typical Cushing’s disease, the Pseudo Cushing’s, the elusive Cushing’s disease, the mild autonomous cortisol hypersecretion, Cushing’s syndrome in pregnancy and Cushing’s disease with thromboembolism. We discussed their particularities which were revelatory for the diagnosis, such as dermatologic, cardiovascular, musculoskeletal, neuropsychiatric, or reproductive signs, reviewing literature for each manifestation. We also discuss the commonalities and differences in laboratory and imagistic findings. Therapeutic approach can also differ with respect to the particular condition of each patient and the multiple choices of therapy will be reviewed.