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...

Background: Cushing Syndrome (CS) is associated with metabolic disturbances, including obesity. The 1 mg Dexamethasone Suppression Test (1mgDST) is widely used to assess cortisol regulation in suspected CS patients. However, its interpretation may require adjustments based on individual factors, such as body mass index (BMI), due to obesity’s influence on cortisol metabolism. The literature offers differing cutoff values for obese patients. This study aimed to establish B...

Background: Papillary thyroid cancer (PTC) is a disease with an indolent course, excellent overall prognosis and long-term survival. However, some PTCs are associated with an increased risk of recurrent disease and aggressive behaviour. Many exogenous factors, as obesity, could be implicated in the pathogenesis of thyroid cancer but the biological mechanisms that may explain this connection have been only partially described. Potentially factors that combine overweight with th...

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...

The predominant subtype of familial partial lipodystrophy (FPLD) is a rare autosomal dominant disease occurring in Arginine 482 codon of LMNA gene (FPLD subtype 2, also known as Dunnigan-type lipodystrophy). FPLD may also occur in patients harboring mutations in different exons of LMNA. We herein describe two unrelated patients referred to our Center for the suspicion of partial lipodystrophy and carrying two novel heterozygous LMNA variants. The fir...

Introduction: Lipodystrophy is a rare disease that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage. Many patients with lipodystrophy are only diagnosed after significant metabolic abnormalities arise.Aim: Prompt action by clinical teams may improve disease outcomes in lipodystrophy. The aim of the Rapid Action Plan is to ser...