Endocrine Abstracts

Subacute thyroiditis (SAT) is an inflammation of the thyroid gland characterized by varying degrees of severity regarding thyrotoxicosis, inflammation and the incidence of hypothyroidism. The present study aims to identify whether the severity of SAT depends on the causative agent involved and to identify what is the optimal therapy. To this purpose we retrospectively evaluated 402 patients referred to of the University Hospital of Pisa because of to a SAT from January 2011 to...

Berardinelli-Seip congenital lipoatrophy type 1 (BSCL1) is a rare autosomal recessive disease caused by mutations in the AGPAT2 gene. This syndrome is characterized by near total absence of adipose tissue since birth, associated with the progressive development of metabolic complications. The AGPAT2 gene encodes for 1-acylglycerol-3phosphate-O-acyltransferase highly expressed in white adipocytes that catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, a...

BackgroundSubacute thyroiditis (SAT) has been related to acute respiratory syndrome coronavirus 2 (SARS-CoV-2). We evaluated the incidence and the severity of SAT due to SARS-CoV-2.MethodsA cross-sectional, retrospective study was conducted at the Endocrinology Unit of University-Hospital of Pisa, Italy. All patients experiencing SAT arisen within a period of 15 days earlier and yet untreated, assessed from J...

Introduction: The association between thyroid cancer and thyrotoxicosis is rare and, in particular, autonomous hyperfunctioning metastasis of differentiated thyroid cancer (TC) are seldom described, with a prevalence of 0.71%. Althought most hyperfunctioning metastasis are derived from follicular thyroid cancer (FTC), metastasis from papillary thyroid cancer (PTC) have been also reported. Bone metastasis account for the majority of cases. Hyperfunctioning TC metastasis have be...

Fine-Needle Aspiration Biopsy (FNAB) is the recommended diagnostic tool for differentiating malignant from benign thyroid nodules and provides indication for surgical decisions. According to the Italian system, thyroid nodules are classified as TIR 1/1C, TIR 2, TIR 3A, TIR3B, TIR4 or TIR5, which correspond to Thy I, Thy II, Thy III, Thy IV, Thy V and Thy VI categories of the Bethesda system. TIR 3 identifies the indeterminate nodules. Surgery is usually recommended for TIR 3B,...

BackgroundIn lipodystrophy (LD) adipose tissue function is impaired, leading to a severe metabolic syndrome. Familiar Partial LD (FPLD) type I (Kobberling Syndrome) overlaps with Cushing’s syndrome phenotype. The latter and the metabolic impairment observed in FPLD1 may suggest a crosstalk between the HPA axis, assuming that leptin sensitivity is preserved in this context. We aimed to evaluate if leptin levels are associated with glucocorticoid acti...

Objective: Destructive thyroiditis is the most common endocrine immune related adverse event (iRAEs) in patients treated with anti-PD1/PD-L1 agents. Given its self-limited course, current guidelines recommend no treatment for this iRAE. Nevertheless in patients with enlarged thyroid volume and a poor performance status, thyrotoxicosis may be particularly severe and harmful. Aim of the study is to evaluate if steroid treatment might be useful in improving thyrotoxicosis in subj...

Generalized lipodystrophies are extremely rare diseases. Despite remarkable progress in identifying genes responsible for the most common forms of genetic lipodystrophies, the molecular basis of disease in some patients with distinctive phenotypes remains unclear. We herein describe the case of a male patient born from non-consanguineous parent affected by a syndrome characterized by generalized lipodystrophy, psycho-somatic growth retardation, cleft palate, macroglossia, righ...

Objective: To evaluate the real-world experience of patients with generalized (GL) and partial (PL) lipodystrophy initiating treatment with metreleptin as part of an early access program (EAP).Methods: A retrospective data collection was conducted from four countries for patients enrolled in the EAP. A descriptive analysis was performed on selected patient characteristics, baseline organ impairments and complications, and response to metreleptin therapy,...

Context: Programmed cell death protein 1/programmed cell death protein ligand 1 (PD-1/PD-L1) are key regulators in T-cell activation and tolerance. Nivolumab (PD-1 inhibitor) and Atezolizumab (PD-L1 inhibitor) are monoclonal antibodies approved for the treatment of several types of advanced cancers. Immune checkpoint inhibition caused by these drugs can result in immune-related adverse events (irAEs) New-onset diabetes mellitus has been reported in fewer than 1% of patients an...