Endocrine Abstracts

Dysregulation of types 2 and 3 deiodinases (D2 and D3) alters the metabolism of thyroid hormones in the patients with nonthyroidal illness syndrome (NTIS). Previous studies have demonstrated that deiodinase expression varies in the muscle in different disease models. Nevertheless, the location of D2 and D3 and the effect of oxidative stress on reticulum endoplasmic (ER) and mitochondrial function are not described in human muscle with different types of acute disease and NTIS....

Dysregulation of types 2 and 3 deiodinases (D2 and D3) are present and profoundly alters the metabolism of thyroid hormones in the nonthyroidal iIllness syndrome (NTIS). The activation of this enzyme in peripheral blood cells can be one of the factors that alters the progression of this syndrome. However, the effect of oxidative stress on D3 expression in these cells from ill patients is unknown.ObjectiveEvaluate the presence and variations of D3 expression in the granulocytes...

Onset of puberty strongly depends on organizational processes taking place during the fetal and early postnatal life. Therefore, exposure to environmental pollutants such as Endocrine disrupting chemicals during critical periods of development can result in delayed/advanced puberty and long-term reproductive consequences. Human evidence of altered pubertal timing after exposure to endocrine disrupting chemicals is equivocal. However, the age distribution of pubertal signs poin...

The Barraquer-Simons syndrome is a rare form of partial symmetric lipodystrophy with involvement of the face and upper body, of unknown cause, characterized by loss of subcutaneous fat in the face and started stretching for the upper body.Case report: Female patient, 26 years old, presenting morphologic change in facies, chest, upper limbs, lower limbs and abdomen since she was 10 years old. Last year, she has increased weight at 30%, with apparent muscl...

Introduction: Pheochromocytoma and paraganglioma (PPGLs) are rare neuroendocrine tumors. Some of them are catecholamine-secreting tumors responsible for hypertension or adrenergic symptoms. Among 10% are malignant with a higher rate of malignancy in the inherited syndromes. Management of patients with hereditary pheochromocytoma and PPGLs is well defined and standard treatment is surgical resection.Case report: We report the case of a 53-year-old man who...

Autosomal dominant hypocalcemia type 1 (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of PTH. It is caused by a heterozygous activating mutation of the calcium-sensing receptor (CASR) gene, resulting in decreased sensitivity of the receptor to low serum calcium. The aim of our study was to describe a series of patients with ADH1 followed at our outpatient clinic from 2011 to 2023. A total of 7 patients (4 femal...

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...

Background: Pregnancy does not cause differentiated thyroid cancer (DTC) recurrence in patients without structural or biochemical evidence of disease at the time of conception. However, data regarding pregnancy’s impact in patients with persistent DTC before conception are still controversial.Aim: The aim of the study was to determine whether pregnancy could significantly influence the outcome in DTC patients in persistence before pregnancy, but wit...

The management of loco-regional metastases in patients with differentiated thyroid carcinoma is still debated. Current American Thyroid Association guidelines state that in this context the main goal is to differentiate between low-volume metastatic disease that will progress and that remaining stable over time.Aim of our study was to evaluate the behavior of suspicious or cytologically confirmed lymph node metastases, detected after initial treatment (i...

Radioiodine refractory differentiated thyroid cancer can be effectively treated with multi-tyrosine-kinase inhibitors (mTKI). Due to their pleiotropic mechanism of action, these drugs may cause different side effects. Hypocalcaemia has been reported in up to 35% of patients treated with mTKI, but little is known about its pathophysiology and clinical relevance. We report the case of a 78 years old woman treated for a multifocal papillary thyroid cancer, infiltrating perithyroi...