Endocrine Abstracts

Background: Adrenocortical carcinoma (ACC) is a rare cancer for which available systemic treatments, mitotane ± etoposide, doxorubicin and cisplatin (EDP-M), have limited efficacy.Objectives: Here, we strengthen the effect of progesterone (Pg) on metastatic ACC cell lines, studying whether it could influence growth, invasiveness, and metastasis formation. Additionally, we investigate if the Pg analogue megestrol-acetate administered with EDP-M could...

Osteogenesis imperfecta (OI), the most common among the rare hereditary skeletal dysplasias, is a juvenile form of osteoporosis ranging from mild to perinatal lethal forms. Classical OI is a dominant disease affecting the COL1A1 and COL1A2 genes encoding for the α chains of type I collagen, the most abundant protein of the bone extracellular matrix (ECM). In the last decade new causative genes associated to dominant, recessive and X-linked transmission o...

Introduction: Differenziated thyroid carcinomas (DTC), particularly papillary thyroid carcinomas (PTCs), usually have an indolent behavior, howewer 10-20% of the patients develop recurrences, following surgery. There are several histological features associated with more frequent recurrences as the hystopathological variants of PTCs, the presence of vascular invasion or lymph node metastases and the presence of extrathyroidal extension (ETE). Case history: a 56yrs old male pat...

Introduction: The pseudo-Cushing’s encompass several disorders that can occur in high-stress situations, such as the sepsis, and that show biochemical features like those of Cushing’s syndrome. We present a case with difficult differential diagnosis, for overlapping laboratory findings.Case description: A 74-year-old man was admitted to our hospital for worsening dyspnoea since a month, 15 kilograms weight loss in the previous months, asthenia,...

Introduction: Levothyroxine (LT4) tablets are the most used treatment for hypothyroidism worldwide. LT4 tablets should be taken in the morning and have a fasting state. Some patients could be unable to adhere to this recommendation resulting in poor therapy compliance and thyrotropin (TSH) concentration above the upper normal limits. A previous double-blind placebo-controlled trial showed that LT4 liquid could be ingested during breakfast without a significant difference in TS...

ACTH is the product of proteolytic processing of its precursor, proopiomelanocortin (POMC) and, in turn, is subject to proteolytic degradation. Regulation of proteolysis is crucial to several intracellular processes, including protein activation and inactivation, and thus contributes to active peptide concentrations. The proteosome 26S/ubiquitin system (UPS) is the main, non-lisosomial intracellular proteolytic pathway and alterations to this system have been observed in both ...

Primary hyperparathyroidism (PHPT) is a common disorder in adults but is uncommon in young people and features of juvenile PHPT (J-PHPT) are debated in literature. The aim of the study was to evaluate the characteristics of PHPT in juvenile sporadic (S) and familial (F) patients. It’s a monocentric prospective study at a referral centre in 154 patients with ≤40 years. Patients were evaluated at diagnosis and at the last follow-up visit (median follow-up 2 years), co...

Primary hyperparathyroidism (PHPT) is usually a sporadic disorder, but in <10% of cases occurs as part of hereditary syndromes, including multiple endocrine neoplasia types 1 and 2A (MEN1 and MEN2A), hyperparathyroidism–jaw tumor syndrome (HPT–JT) and familial isolated hyperparathyroidism (FIHP).MEN1 is an autosomal dominant disorder characterized by tumours in multiple endocrine glands, most commonly parathyroid, enteropancreatic and anter...

The most frequent mutation in papillary thyroid carcinoma (PTC) is the p.V600E of the BRAF gene. This mutation leads to the aberrant activation of the RAS / BRAF / MEK / ERK pathway and consequently to the under-regulation of thyroid-specific genes, resulting in uncontrolled growth and de-differentiation of cancer cells. In this work, we analyzed the transcriptomics data produced by the TCGA project using a network approach. The analysis led to the identification of r...

Introduction: Pregnancy results in a significant change in pituitary gland size and function.Due to this physiological adaptation, management of pituitary adenomas during pregnancy represents a particularly complex challenge. Aim of this study was to focus on a single referral institution experience with special attention to this subgroup of patients: pregnant woman affected by pituitary adenoma.Materials and methods: This is a des...