Endocrine Abstracts

Lipodystrophic syndromes are a heterogeneous group of usually rare disorders, which have in common the selective and irreversible deficiency of adipose tissue in the absence of nutritional deprivation or catabolic state. Clinically, they are characterized by insulin resistance, related to a state of hypoleptinemia, with manifestations such as polycystic ovarian syndrome, type 2 diabetes mellitus, severe hypertriglyceridemia, and steatohepatitis among their most frequent metabo...

Anaplastic thyroid carcinomas (ATC) are characterised by a poor prognosis, due to a highly proliferative, metastatic and undifferentiated state. Follicular thyroid cells undergo epithelial to mesenchymal transition (EMT) by the upregulation of TGFβ pathway. Interestingly, in many epithelial cancer types a correlation between high levels of SIX1 expression and TGFβ signaling has been described.Objective: Study the role of SIX1 homeoprotein in th...

Sox9 is a transcription factor of the HMG box DNA binding family involved in chondrocyte differentiation, sexual determination and the development of endoderm-derived-organs. Preliminary results from our laboratory have shown that Sox9 is expressed in the thyroid gland and its regulation is under the control of TSH and TGFβ. In this work we studied the role of Sox9 in the thyroid cells differentiation and its relationship with the other thyroid transcription factors, main...

The transcription factor Sox9 is a member of the HMG-box-DNA binding family essential for chondrocyte differentiation, sexual determination, and the maintenance of the stem/progenitor cells in several tissues. Furthermore, Sox9 is involved in the development of endoderm-derived-organs. Owing to the endodermic origin of the thyroid, we proposed to study the expression of Sox9 in thyroid follicular cells and its regulation by TSH and TGFβ, two main factors involved in thyro...

Undifferentiated thyroid carcinomas are extremely aggressive and currently lack effective treatment. Aberrant RAS-ERK signaling, triggered mainly by BRAF and RAS mutations, is responsible for the occurrence and progression of most thyroid carcinomas, which led to the clinical use of small kinase inhibitors targeting kinases of the pathway. The results were disappointing, because of the emergence of resistance and high-associated toxicity. A more specific approach, targeting si...

Regulatory circuits involving miRNAs and transcription factors (TFs) are prevalent mechanisms of gene expression by which developmental and pathologic processes occur. MiR-146b is one of the most upregulated and abundant oncomiRNAs in papillary thyroid carcinomas (PTCs). We have previously shown that miR-146b and PAX8 regulate each other and share common target genes such as NIS, thus highlighting a miR-146b-3p/PAX8/NIS regulatory circuit that governs the differentiated phenot...

Background: heterophilic antibodies are antibodies in patients’ sample that can cause false results by binding to the assay antibodies. Interference due to heterophilic antibodies may lead to falsely low or high analytic concentrations. In some settings, the relationship between TSH and thyroid hormones does not fit with the expected feedback mechanisms. This may be due to a pathophysiological process, laboratory error or assay interference.Case rep...

Introduction: In the geographical area of southern Spain, in the province of Huelva, we have detected prevalent cases of Dunnigan’s partial hereditary lipodystrophy. The genealogy, the suspicion phenotype and the coordination with the Genetics Service and Reference center, have borne fruit, and more and more families are detected in Our Area. The lipodystrophies, in general, are rare diseases that affect the adipose tissue, disappearance of it in different parts of the bo...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare condition (1–2% of causes for hypercalcemia) and may be confused with primary hyperparathyroidism. Diagnosis of FHH must be suspected in patients with a family history of chronic hypercalcemia, no symptoms and low urinary excretion. This disease is due to mutations in the calcium-sensing receptor (CASR) gene. Meningiomas are common intracranial tumors (15–20% of primary neoplasms of the central nervou...

A 50-year-old woman with no history of interest who was admitted in hospital for progressive headache 2 weeks of evolution refractory to treatment that was accompanied by emetic syndrome and paresthesias in face and arms. A CT scan of the skull (urgency) was performed which was normal. Neurology improves with analgesia and steroids, presenting mild drowsiness and mild hyponatremia (121 mEq/l). A cerebral MRI was performed, showing a right subacute hemorrhagic adenoma of 1 cm t...