Cushing’s syndrome (CS) during pregnancy is a rare condition with fewer than 150 cases reported in the literature. Adrenal adenomas were found to be the commonest cause, followed by Cushing’s disease. The gestation dramatically affects the maternal hypothalamic-pituitary-adrenal axis, resulting in increased hepatic production of corticosteroid-binding globulin (CBG), increased levels of serum, salivary and urinary free cortisol, lack of suppression of cortisol levels after dexamethasone administration and placental production of CRH and ACTH. Moreover, a blunted response of ACTH and […]

Endogenous Cushing’s Syndrome (CS) is unusual. Patients with subclinical CS (SCS) present altered cortisol dynamics without obvious manifestations. CS occurs in 2-3% of obese poorly controlled diabetics. We studied 103 overweight adult outpatients with type 2 diabetes to examine for cortisol abnormalities and SCS. All collected salivary cortisol at 23:00 h and salivary and serum cortisol after a 1 mg dexamethasone suppression test (DST). Patients whose results were in the upper quintile for each test (253 ng/dL, 47 ng/dL, and […]

We studied clinical and laboratorial features of 73 patients with endogenous Cushing’s syndrome, subdivided as follows: 46 (63%) with Cushing’s disease (CD), 21 (28.7%) with an adrenal tumor and 6 (8.2%) with ectopic ACTH secretion (EAS). The rate of typical manifestations of hypercortisolism was similar regardless its etiology. In 100% of cases of Cushing’s syndrome we observed serum cortisol levels greater than 1.8 µg/dL in low-dose dexamethasone (DMS) suppression tests, as well as elevation of serum or salivary midnight cortisol. […]

Cushing’s syndrome (CS) due to ectopic ACTH secretion has a high morbidity and mortality. Thus, rapid treatment of ectopic CS is mandatory. Carcinoid tumors associated with ectopic ACTH (CTu-ACTH) syndrome represent a more severe clinical picture, due to the carcinoid symptoms that worsen the hypercortisolism state. Management of patients with CTu-ACTH should include the control of hypercortisolism, as well as the carcinoid disturbance. We report 3 patients (2F, 1M) with CTu-ACTH (2 pancreatic, 1 ocult) who presented with clinical manifestations […]

Cushing’s syndrome comprises the symptoms and signs associated with prolonged exposure to inappropriately elevated levels of free plasma glucocorticoids. When iatrogenic causes are excluded, the commonest cause of Cushing’s syndrome is Cushing’s disease, accounting for approximately 70% of cases. We present the case of a 20-year-old male patient with central obesity, moon face and purple-red striae, whose diagnostic investigation shows a pituitary macroadenoma. The patient was submitted to transsphenoidal hypophysectomy, but developed early recurrence. He was submitted to a second […]

AIMAH is a clinical condition characterized by the presence of adrenal macronodules even in the absence of ACTH. Usually the clinical overt syndrome only becomes apparent after several decades of life; this is probably due to the low steroidogenic enzyme capacity of the hyperplastic tissue. However, in asymptomatic individuals in whom the AIMAH was incidentally discovered, the HHA axis is usually disrupted. In the great majority of AIMAH cases, cortisol secretion is aberrantly regulated by hormones such as GIP, AVP, […]

Carney complex (CNC) is a familial multiple neoplasia syndrome associated with abnormal skin and mucosal pigmentation, primary pigmented nodular adrenocortical disease (PPNAD), cardiac and cutaneous myxomas, GH and PRL pituitary adenoma, testicular tumors, thyroid adenoma or carcinoma and ovarian cysts. CNC is inherited as an autosomal dominant trait and has some clinical similarities to McCune-Albright syndrome. Recently, genes related to stimulation of the cAMP signaling pathway have been considered candidates for causing CNC. We report a 17-yr-old man with PPNAD, […]

Pregnancy is a rare occurrence in Cushing’s syndrome (CS) and it is associated with severe arterial hypertension in 64.6% of cases; infertility and abortion occur in 75% of patients with CS. In the event of a pregnancy in CS the etiology of hypercortisolism is the cortisol-producing adrenal adenoma in most cases. A most severe complication of high blood pressure in pregnancy is the HELLP syndrome. We report two cases of pregnancy in patients with CS, who developed a severe, sudden […]

Opportunistic infections in endogenous Cushing’s syndrome are associated with severe cortisol excess and carry a high mortality. Pulmonary cryptococcosis is one of these opportunistic infections and can mimic a lung neoplasm, therefore making its diagnosis difficult. We report a case of a young male with ACTH-dependent Cushing’s syndrome and severe hypercortisolism. The patient achieved cure after the transfenoidal surgery, but developed a febrile state. A chest computed tomography showed a pulmonary nodule that did not change in serial chest radiographs. […]

Measurement of salivary cortisol, which evaluates the free form of the hormone, has become popular following the development of commercial assays. This article evaluates the different assays available for measurement of salivary cortisol, and its clinical application in some physiological and pathological conditions. Measurement of salivary cortisol has been extensively used to evaluate cortisol circadian rhythm and adrenal insufficiency, in the first days of life of full-term and pre-term infants, and to evaluate the hypothalamic-pituitary-adrenal axis (HPA) activity in adults […]

Surgical approach is still the optimal therapy for endogenous Cushing’s syndrome. However, pharmacotherapy has a role as primary or adjunctive therapy, when surgery fails or the patient refuses or cannot be submitted to surgery. Steroidogenesis inhibitors are the main drugs used to control Cushing’s syndrome by reducing cortisol levels by adrenolytic or direct blocking enzymatic actions. Ketoconazol is effective as monotherapy; methyrapone and mitotane are also effective as single on combined therapy. Neuromodulators (compounds that modulate ACTH release from a […]

The diagnosis of Cushing’s syndrome require an accurate clinical suspicion, information about hypothalamic-pituitary-adrenal axis, adequate use of functional hormonal tests and the indication of resolutive image examination with the objective of determining its etiology. In this paper, we discuss the diagnostic approach of the Cushing’s syndrome, the application of the hormonal tests used for the syndromic and etiologic definition, with special focus in the differential diagnosis of Cushing’s Disease vs. pseudo-Cushing’s states and Cushing’s disease vs. ectopic ACTH syndrome. Finally, […]