Endocrine Abstracts

Introduction: Aggressive ACTH-independent Cushing’s syndrome is rare and frequently related to malignant adrenocortical tumor. However, in exceptional situations, ectopic steroids secretion has been described.Case report: We report the case of an 87 years-old woman referred to our clinic in September 2020 after a low trauma sacral fracture. Her recent medical history revealed the onset, in the previous months, of severe hypokalemia, uncontrolled typ...

Introduction Primary bilateral macronodular adrenal hyperplasia (PBMAH) is potentially responsible for variable degree of cortisol excess. In patients with PBMAH the complete remission of cortisol hypersecretion can be achieved only by performing bilateral adrenalectomy, leading to a persistent hypocortisolism and to a consequent need of a lifelong glucocorticoid replacement therapy. Therefore, bilateral adrenalectomy is worth doing only in patients with severe hypercortisolis...

Introduction: Primary aldosteronism (PA) has been described in association with endocrine and non-endocrine neoplasms. Aldosterone-producing adenomas mainly associate with hyperparathyroidism, prolactinomas and pancreatic endocrine tumors, particularly in the context of multiple endocrine neoplasia type 1 MEN1 syndrome. Next-generation sequencing (NGS) studies have shown frequent somatic mutations underlying PA and, rarely, germline mutations of CYP11B1/CYP11B2</e...

Background: The Endocrine Society Guidelines recommend screening for hypercortisolism especially in patients with specific features that best discriminate Cushing’s Syndrome (CS): easy bruising, facial plethora, proximal myopathy and striae. Clinical experience suggests that these features, though suggestive of hypercortisolism, are not enough sensitive. Indeed, patients with hypercortisolism frequently manifest primarily less discriminatory cortisol-related features, suc...

Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing’s syndrome (CS). Approximately 30% of patients with PPNAD are sporadic cases and the other are familial. We describe a case of a patient affected by PPNAD presenting with isolated arterial hypertension. A 19-year-old black female patient was referred to the Endocrinology Unit in september-2021 due to severe arterial hypertension and fatigue. Previous clinical history was un...

Introduction: The classical replacement therapy for hypoadrenalism may expose patients to non-physiologic glucocorticoids levels with negative metabolic consequences. Up to now, one study demonstrated that, as compared to the classical treatment, a modified-release hydrocortisone (MRH), improves weight, blood pressure, glycaemic control and QoL in a 3-month follow-up period. Few data are available on the long-term persistence of these benefits.Design/met...

Adrenocortical carcinomas (ACCs) are rare endocrine tumors with poor prognosis. The insulin-like growth factor 2 (IGF2) is overexpressed in the great majority of ACC, and IGF2/IGF1R pathway acts as a proliferative autocrine loop, but to date IGF1R-targeted therapies have demonstrated a limited efficacy and the molecular mechanisms regulating this pathway are still unknown. The cytoskeleton acting-binding protein filamin A (FLNA), determinant in cancer progression and metastasi...

Introduction: The management of patients with adrenal incidentaloma (AI) and possible subclinical hypercortisolism (SH) is debated. This randomized study was aimed to evaluate the effects of adrenalectomy on arterial hypertension (AH).Methods: We consecutively evaluated 590 AI patients (referred to 3 Italian Centres between 06/2016 and 12/2019). Among these, 134 patients showed a possible SH (i.e. 1 mg DST between 1.8 and 5 µg/dl). Based on the excl...

Patients (pts) with adrenal incidentaloma (AI) may show an increased incidence of several cardiovascular risk factors, as obesity, hypertension, diabetes mellitus and dyslipidemia. As previous data suggested that the increased cardiovascular risk in these pts could be in part mediated by alterations of adipokines, this study was aimed to evaluate plasma IL-6, resistin, CT-1 levels in a wide series of pts with AI.Ninety-three pts (42 males; 51 females; ag...

Background: Several criteria (i.e., cortisol supprimibility after 1 mg overnight dexamethasone suppression test -F-dex-, low ACTH levels, high 24 h urinary free cortisol levels -UFC-, high midnight serum cortisol levels) have been used for defining SH. Nevertheless, a real gold standard combination of tests is lacking. Recently midnight salivary cortisol (MSC) has been described as a sensitive marker for the diagnosis of overt hypercortisolism, while the role of MSC in the dia...