ABSTRACT Cushing’s syndrome is a chronic disorder characterized by prolonged glucocorticoid exposure, leading to significant multisystem complications. Multiple epidemiological studies have demonstrated a substantially elevated risk of venous thromboembolism in patients with Cushing’s syndrome, including deep vein thrombosis and pulmonary embolism, particularly during active disease, the perioperative period, but more importantly also after biochemical remission. Hypercortisolism promotes a hypercoagulable state through multiple mechanisms, including persistent endothelial dysfunction, increased procoagulant factors such as von Willebrand factor and factor VIII, impaired fibrinolysis, […]

ABSTRACT Immune checkpoint inhibitors have become transformative therapies, significantly enhancing survival outcomes for various neoplasms. However, they often trigger immune-related adverse events, including endocrinopathies. Cushing’s syndrome, characterized by exposure to elevated levels of circulating cortisol, presents a wide range of clinical features and is closely associated with increased morbidity and mortality. This article reports on a case of a patient under checkpoint inhibitor therapy, who developed cyclic adrenocorticotropic hormone-dependent hypercortisolism. The patient exhibited a Cushingoid phenotype, and testing revealed increased […]

ABSTRACT Objective To analyze the morphological and functional characteristics of primary macronodular adrenal hyperplasia (PMAH) nodules carrying or not carrying ARMC5 mutations and the consequences of the presence of mutations in terms of the pattern of macronodule composition and functional state. Subjects and methods The analyses were performed by hematoxylin-eosin staining, immunohistochemistry, microdissection of spongiocyte tissue and RT-qPCR of histological sections from 16 patients diagnosed with PMAH with germline (5) or germline/somatic mutations (5) and without mutations (6) in the […]

ABSTRACT Objective The aim of this study was to determine the frequency of central thyroid dysfunctions in Cushing’s syndrome (CS). We also aimed to evaluate the frequency of hyperthyroidism due to the syndrome of the inappropriate secretion of TSH (SITSH), which was recently defined in patients with insufficient hydrocortisone replacement after surgery. Materials and methods We evaluated thyroid functions (TSH and free thyroxine [fT]) at the time of diagnosis, during the hypothalamo-pituitary-adrenal axis recovery, and after surgery in 35 patients […]

ABSTRACT The treatment objectives for a patient with Cushing’s disease (CD) are remission of hypercortisolism, adequate management of co-morbidities, restoration of the hypothalamic-pituitary-adrenal axis, preservation of fertility and pituitary function, and improvement of visual defects in cases of macroadenomas with suprasellar extension. Transsphenoidal pituitary surgery is the main treatment option for the majority of cases, even in macroadenomas with low probability of remission. In cases of surgical failure, another subsequent pituitary surgery might be indicated in cases with persistent tumor […]

ABSTRACT Although it is a rare condition, the accurate diagnosis and treatment of Cushing’s disease is important due to its higher morbidity and mortality compared to the general population, which is attributed to cardiovascular diseases, diabetes mellitus and infections. Screening for hypercortisolism is recommended for patients who present multiple and progressive clinical signs and symptoms, especially those who are considered to be more specific to Cushing’s syndrome, abnormal findings relative to age (e.g., spinal osteoporosis and high blood pressure in […]

Objective To describe and analyze technique for bilateral catheterization of inferior petrosal sinus in our service, discussing the difficulties and success rates found. Subjects and methods Fourteen patients with suspected Cushing’s syndrome underwent bilateral inferior petrosal sinuses (IPS) catheterization between 2009 and 2012. The technique for catheterization and for hormone analysis were described. Results The procedure was well tolerated by all patients, and adequate catheterization was achieved in 92.85% of cases. The diagnosis of Cushing’s disease was confirmed in 10 […]

OBJECTIVE: To estimate the pretest probability of Cushing’s syndrome (CS) diagnosis by a Bayesian approach using intuitive clinical judgment. MATERIALS AND METHODS: Physicians were requested, in seven endocrinology meetings, to answer three questions: “Based on your personal expertise, after obtaining clinical history and physical examination, without using laboratorial tests, what is your probability of diagnosing Cushing’s Syndrome?”; “For how long have you been practicing Endocrinology?”; and “Where do you work?”. A Bayesian beta regression, using the WinBugs software was employed. […]

Ectopic ACTH production occurs in about 10% of all cases of Cushing’s syndrome, and about 25% of cases of ACTH-dependent Cushing’s syndrome. Diverse tumor types are able to produce ACTH ectopically, including small cell lung carcinoma. Ectopic ACTH secretion by malignant neoplasm has been reported to have earlier and more aggressive metabolic effects. We report a 59-year-old male patient with severe hypertension, metabolic alkalosis and hypokalemia as the first clinical manifestations of an ACTH-secreting small cell lung carcinoma, although the […]

Glucocorticoids have a major role in determining adipose tissue metabolism and distribution. 11b-hydroxysteroid dehydrogenase type 1 (11bHSD1) is a NADPH-dependent enzyme highly expressed in the liver and adipose tissue. In most intact cells and tissues it functions as a reductase (to convert inactive cortisone to active cortisol). It has been hypothesized that tissue-specific deregulation of cortisol metabolism may be involved in the complex pathophysiology of the metabolic syndrome (MS) and obesity. Transgenic mice overexpressing 11bHSD1 in adipose tissue develop obesity […]

Ectopic adrenocorticotropic secretion (EAS) is responsible for 12-17% of cases of Cushing’s syndrome (CS) and covers a range of tumours, from undetectable benign lesions to widespread metastases. The syndrome is often associated with severe hypercortisolaemia, which aggravates the underlying condition. EAS requires a complete workup that includes the establishment of endogenous CS, diagnosis of adrenocorticotropic hormone (ACTH) dependency, localization of the source of ACTH secretion and rapid biochemical control of hypercortisolaemia. Dynamic endocrine tests should include inferior petrosal sinus sampling […]

Laparoscopic adrenalectomy is one of the most clinically important advances in the past 2 decades for the treatment of adrenal disorders. When compared to open adrenalectomy, laparoscopic adrenalectomy is equally safe, effective, and curative; it is more successful in shortening hospitalization and convalescence and has less long-term morbidity. The laparoscopic approach to the adrenal is the procedure of choice for the surgical management of cortisol-producing adenomas and for patients with corticotropin (ACTH) dependent Cushing’s syndrome for whom surgery failed to […]