Endocrine Abstracts

Context: A variety of thyroid disorders have been documented in COVID-19 patients, including non-thyroidal illness syndrome (NTIS), subacute thyroiditis (SAT) and thyrotoxicosis.Objectives: To investigate the relationship between thyroid dysfunctions observed during hospitalisation and COVID-19-related morbidity and mortality.Study design and setting: Prospective cohort study on patients admitted in a tertiary hospital for COVID-19...

Menopause timing is highly variable, having a direct effect on reproductive lifespan, fertility and health outcomes in later life. Endocrine and imaging tests only record changes in ovarian function that have already taken place, thus disabling early prediction and identification of women with reduced reproductive lifespan. Human genetic studies have attempted to overcome this problem by identifying genetic markers associated with menopause timing and fertility. Using data fro...

Introduction and objective: Patients with the 22q11.2 deletion syndrome (22q11DS) frequently display cardiological and psychiatric diseases, but are also at increased risk for endocrine manifestations. The aim of this study was to evaluate the screening, prevalence, and management of hypoparathyroidism and thyroid disease in patients with 22q11DS, to evaluate the metabolic profile and to compare these results with current literature and guidelines.<p class...

Background: Neuroendocrine tumors (NET) are malignant neoplasms that can be associated with specific hormonal syndromes. We describe a novel syndrome of postmenopausal vaginal bleeding and ovarian estradiol overproduction due to ovarian NET localizations.Methods: A clinical workup was performed for 2 index patients with ovarian metastases of small bowel neuroendocrine tumors and symptoms of postmenopausal vaginal bleeding. Ovarian tissue was collected af...

Introduction and Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare disease caused by a mutation in the ABCD1 gene (Xq28). It is characterized by the absence of very long-chain fatty acids (VLCFAs) degradation, leading to their accumulation primarily in the central and peripheral nervous system, adrenal cortex, and gonads. It presents a variable clinical spectrum and prognosis. The aim of our study is to describe the characteristics of all X-ALD patients under follow-u...

Introduction: Autosomal dominant hypocalcemia (ADH) type 1 is a rare form of hypoparathyroidism, caused by heterozygous, inherited or de novo, activating mutations in the CASR. CASR is also expressed in the kidney and activating mutations lead to decreased calcium renal absorption. Activating mutations in the CasR, inhibits salt transport, leading to Bartteŕs syndrome (BS) type V which can co-exist with ADH1. Chronic myeloid leukemia (Cml) is characterized by the...

Introduction: Traditionally, obesity is thought to exert a positive impact on bone mineral density (BMD). However, the effect of adipose tissue on bone health is under investigation. Trabecular bone score (TBS) is a measure of bone texture, providing information on bone quality and microarchitecture, independently of BMD. Lower values of TBS indicate a worsening in bone quality and amplify fracture risk. Herein, we aimed to investigate the association of body composition and b...

Introduction: Thyroid function tests are frequently undertaken in children with non-specific symptoms suggestive of thyroid dysfunction. Infrequently, susceptibility of automated thyroid hormone assays to interference may generate misleading results, with the potential for inappropriate diagnosis and management. We report an unusual case with apparent subclinical hyperthyroidism, due to negative interference in particular TSH assay platforms, with an underlying genetic basis.<...

Introduction: Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disorders. Endocan is a novel molecule of endothelial dysfuction which is expressed in liver. SGLT2i have been reported to improve NAFLD through amelioration of inflammation. While there are contradictory results regarding the serum endocan levels in NAFLD patients, data regarding endocan expression in liver tissue are limited. Aim: Herein, we aimed to investigat...

Background: In our previous works the interdependence of DNA demethylation with proliferation and differentiation of pituitary neuroendocrine tumours (PitNET) and the inhibitory effect of Aspirin on pituitary cell proliferation were demonstrated. Although the role of Aspirin in epigenetic regulation was described in other malignancies, its correlation with pituitary tumorigenesis is currently unknown.Our objective: was to investigate the genomic and epig...