Endocrine Abstracts

Autoimmune thyroid diseases (AITD) are organ specific autoimmune disorders with a T-cell-mediated immune attack directed against the thyroid. Hashimoto’s thyroiditis and Graves’ disease are the two principal AITD clinical presentations, which are characterized by hypothyroidism and thyrotoxicosis, respectively. We review the available data in literature about personalized medicine in patients with autoimmune thyroiditis (AT) and hypothyroidism. The synthetic Levothyr...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Adamantinomatous craniopharyngiomas (ACPs) are among the most common intracranial tumours in children and they originate from undifferentiated pituitary progenitors. Mutations in the gene encoding for β-catenin (CTNNB1), which lead to the constitutive activation of the Wnt/β-catenin signalling pathway, have been associated with ACP. These tumours can invade adjacent structures, such as the hypothalamus, which makes comp...

Objectives: Currently 131I treatment after surgery is suggested in selected intermediate-risk and in high-risk patients with DTC. In patients with radio-avid structural disease and in those with biochemical disease a second 131I treatment could be considered. However data about the impact of the second 131I treatment on clinical status remains controversial.Methods: Clinical data of 231 DTC patients followed at the Unit o...

Recently, human cerebral organoids (hCOs) emerged as powerful three-dimensional in vitro models recapitulating key aspects of early human cerebral cortex development. Improved protocols for hCO generation from induced pluripotent stem cells (hiPSC) paved the way for new disease modeling approaches and enable multimodal analyses of perturbed neurogenesis resulting from manipulation of signaling pathways or gene function. These prospects prompted us to adopt this techno...

Background: Patients with adrenal insufficiency (AI) require long-term glucocorticoid (GC) replacement therapy and generally show an increased prevalence of bone metabolism alterations. Only few data are available on bone safety of dual-release Hydrocortisone (DR-HC) therapy.Objective: To evaluate bone metabolism in both primary AI (PAI) and secondary AI (SAI) during long-term therapy with DR-HC.Methods: We studied patients with AI...

Background: Patients with Cushing’s syndrome (CS) typically show an alteration in the intrinsic coagulation pathway, leading to an increased risk of venous thromboembolism. Cortisol autonomy has been variably associated with higher risk of cardiovascular events and mortality compared to patients with non-functioning adrenal adenomas (NFA), particularly in women younger than 65 years. However, dedicated studies describing coagulation status in patients with adrenal inciden...

Background: As of December 2019, the COVID-19 pandemic has spread rapidly, therefore Governments from all over the world promoted a strategy of social confinement through a general lockdown in order to contain it. During the months following its introduction, many studies reported a significant increase in the incidence of idiopathic central precocious puberty (CPP) throughout several countries, especially in girls.Purpose: The aim of our study was to co...