No abstract

The frequency of the hereditary forms of pheochromocytoma/paraganglioma varies depending on the family history and the clinical presentation. A positive family history and an accurate clinical evaluation of patients are strong indicators of which genes should be screened first.

Simultaneous bilateral inferior petrosal sinus sampling (BIPSS) plays a crucial role in the diagnostic work-up of Cushing’s syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88–100% and 67–100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50–70%) makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres.

Adrenal adenoma is the most frequent lesion among adrenal incidentalomas. The present retrospective study was undertaken to investigate medium-term evolution of supposed or ascertained adrenocortical adenomas in a group of 53 subjects (16 males and 37 females, aged 31-83 yr), with bilateral (no.=8) or monolateral (no.=45) incidentally discovered adrenal masses (size 10-50 mm, median 25 mm), who were followed-up for 6-78 months (median 24 months). Diagnosis of adenoma was based on size and morphovolumetric aspect of the lesion at computed tomography (CT), scintigraphic pattern using NP59 as a tracer, and it was histologically confirmed in 7 patients. After an extensive hormonal investigation including morning (no.=53) and midnight (no.=28) serum cortisol, plasma ACTH (no.=50), serum DHEAS (no.=51), daily urinary free cortisol excretion (no.=52), post-dexamethasone (1 mg) cortisol (no.=42) and ACTH stimulation test for 17-hydroxyprogesterone (17-OHP) response (no.=48) at the time of diagnosis, patients were periodically re-evaluated for hormonal function and radiological aspect of the lesion(s) by CT. Seven patients underwent surgery 6-42 months after incidentaloma demonstration, with histological diagnosis of adrenal adenoma. During follow-up an increase in the size of the lesion was demonstrated in 22 patients (41.5%); the increase was greater than 10 mm in 8 cases. In 3 patients with unilateral mass, a contralateral lesion appeared 10-52 months after first demonstration. Six patients (11.3%) showed reduction or disappearance of the lesions. On the basis of the hormonal evaluation 3 patients were considered to have subclinical Cushing's syndrome and 10 patients exhibited 17-OHP hyperresponse to ACTH test consistent with partial 21 -hydroxylase deficiency. A significant difference in the size of the lesions was observed between patients with or without 17-OHP hyperresponse to ACTH test (31.1 1.9 vs 24.1 +/- 1.2 mm; p<0.01). No significant changes in the hormonal parameters were observed in the patients, when retested. In conclusion, although none of the patients of the present series exhibited evolution to hypersecretion or to aberrant growth, in more than 40% of patients an increase in the size of the mass was observed, even after a long period of "quiescence". This suggests that a radiological re-evaluation of lesions should be periodically undertaken.

Our results indicate that CgA is a good marker of phaeochromocytoma; measurement of CgA could have a role in the follow-up of patients operated on for phaeochromocytoma.