Endocrine Abstracts

Exercise is one of the major determinants of a healthy lifestyle, being crucial in childhood as a powerful preventive tool. On the other hand, obesity and arterial hypertension rate has been increasing in children, thus increasing the risk of developing cardiovascular and metabolic diseases in adult life. Of vital importance is the modality and volume of exercise required to get benefits. In this feasibility study 35 obese children were enrolled. Autonomic and metabolic contro...

Background: It is well-known that gonadal function is impaired in acromegalic females, due to several mechanisms.Aim and design: Retrospective survey of our series.Patients: Our electronic database encompassing data of 180 acromegalic patients collected over 30 years was searched, extracting first data of women (n=91) and then of females aged less than 50 years at diagnosis of acromegaly (n=34)....

Background: Adrenocortical carcinoma (ACC) is a rare cancer associated with hereditary syndromes in 10% of cases. However, data on germline variants (GVs) in adult patients with sporadic ACC are limited.Methods: We analyzed germline DNA from 150 adult patients with sporadic ACC sequentially referred to our centers between 1998-2019. We designed a custom panel of 17 genes potentially involved in the pathogenesis of ACC: AIP, APC, ARMC5, ARNT, BRCA1, BRCA2...

The occurrence of a pheochromocytoma (Pheo) or a paraganglioma (PGL) during pregnancy is extremely rare with a frequency of 0.002% of all pregnancies.Because of the rarity of this association and the extremely variable clinical picture of Pheo/PGL, the diagnosis constitutes a real challenge for the clinicians. In fact, the differential diagnosis between Pheo/PGL and the more frequent gestational hypertension or (pre)eclampsia is very difficult. Paroxysma...

Medullary thyroid carcinoma (MTC) is a rare tumor arising from neural crest-derived parafollicular C cells. MTC occurs either in sporadic or familial form. A key role in the development of MTC is played by the RET proto-oncogene, as virtually all familial and half sporadic MTC cases feature RET point mutations. These mutations lead to the constitutive activation of the RET kinase and its oncogene conversion. Mutations targeting extracellular cysteines cause disulfide-bond medi...

There are four major types of thyroid cancer: well-differentiated papillary (PTC) and follicular (FTC) carcinoma, undifferentiated anaplastic carcinoma (ATC), and neural-crest derived medullary carcinoma (MTC). In the past two decades, some genetic lesions associated with these tumor types have been unveiled, with mutations in RET and BRAF, RAS and PPARγ, RAS, BRAF and PI3K/AKT, and RET, associated to PTC, FTC, ATC and MTC, respectively. PTC and FTC patients are treated b...

Pheochromocytoma (Pheo) is a chromaffin tumor of the adrenal gland. When extra-adrenal, the tumor is called paraganglioma (PGL). At present, the only objective criterion for malignancy is the presence of metastases (i.e. spreading of the tumor in bones, liver, lungs or lymph-nodes where chromaffin tissue is normally absent). Extensive invasion of adjacent tissues can be considered only an indicator of malignant potential as well as high cellularity, necrosis, vascular/capsular...

Adrenocortical carcinoma (ACC) is a rare tumour characterized by a dismal prognosis. The most important predictor of outcome is the possibility to attain a complete resection and prognosis is extremely poor when complete surgical removal of ACC is not feasible. Most patients have resectable disease at presentation; however, fully half of the patients who have undergone complete removal of the tumour are destined to relapse. The high recurrence rate of ACC has prompted many inv...

Definition: High blood pressure due to excessive activation of mineralocorticoid receptors (MR).Consequences of an excess in MR activation are an excess in sodium and water retention, an expansion of plasma volume and a depletion of exchangeable body potassium.Laboratory hallmarks of mineralocorticoid hypertension are a suppressed renin secretion and a tendency to develop hypokalemia.Causes: The most frequent...

SAT due to viral infections is a cause of thyrotoxicosis, neck pain and tenderness on palpation. In the COVID-19 era, SAT seems to be a manifestation of the disease which occurs during SARS-CoV-2 infection. In 2021, some SAT cases were reported after COVID-19 vaccination. We reviewed the incidence of SAT from 2000 to 2021. In the Savona district vaccination of the general population started in February 2021 and progressively involved fragile, healthy elderly, adult and young-a...