Endocrine Abstracts

IntroductionMyxedema coma is a rare condition with an estimated incidence of 0.22 per million per year in the western world and a mortality rate around 30–50%. It can occur as the result of severe longstanding hypothyroidism or be precipitated by an acute event, such as infection. We present a rare case of myxedema coma in an elderly woman with SARS-CoV-2 infection.Case reportAn 82-year-old woman, with n...

Introduction: By Next Generation Sequencing (NGS) our team identified in two families presenting a phenotype compatible with familial non-medullary thyroid carcinoma (Family C and Family R), two new potentially pathogenic germline mutations. Family C presented p.Gly106Arg mutation in the KCNB2 gene, that codifies a voltage-gated potassium channel (vgKCN). Since potassium efflux by the cell is a necessary condition for cellular homeostasis, vgKCN disruption can impact the funct...

Introduction: Metastasis to the thyroid gland is a rare phenomenon and is associated with primary tumors of the kidney, lung, breast, colorectal, and sarcoma. Thyroid metastases account for only 0.4-3.0% of all malignant neoplasms of the thyroid and occur more frequently in patients with goiter, thyroiditis, or nodules than in patients without previous thyroid pathology.Case report: A 57-year-old woman with a history of clear cell renal cell carcinoma (C...

Introduction: Proinsulinoma is an infrequent subtype of pancreatic neuroendocrine tumor (pNET), characterized by the excessive secretion of proinsulin, leading to pronounced hypoglycemia. Clinical manifestations comprise neuroglycopenic and autonomic symptoms, including cognitive impairment, seizures, visual disturbances, diaphoresis, tremors, syncope or coma. Diagnostic modalities involve blood assays and imaging to detect heightened proinsulin production and determine the tu...

Adrenocortical carcinoma (ACC) is an infrequent and aggressive cancer that originates from steroidogenic cells within the adrenal cortex. Half of patients present with metastatic spread at initial diagnosis, and to date, there is no curative therapy for advanced disease. Recent genomic analysis has established that the most aggressive subgroup of ACC patients have overlapping alterations in the WNT/B-catenin pathway and the p53/RB pathway. We therefore set out to develop a met...

Introduction: Effects of prior exposure to testosterone (T) during puberty on the performance of transgender women (TW) in estrogen therapy undergoing physical effort are not known, mainly about cardiopulmonary capacity (CPC). Objectives: To evaluate CPC and muscle strength in TW undergoing long-term gender-affirming hormone therapy (GAHT). Methods: A cross-sectional study was carried out with 15 TW (34.2±5.2 yo), 13 cisgender men (CM) and 14 cisgender women (CW). TW were i...

Background: Adrenocortical carcinoma (ACC) is an aggressive cancer originating from steroidogenic cells within the adrenal cortex. Unfortunately, half of patients present with metastatic spread upon initial diagnosis, and there is no curative therapy for advanced disease. Genomic analysis has identified that the most aggressive subgroup of ACC patients have overlapping alterations in the WNT/β-catenin pathway and the p53/RB signaling pathway.Objecti...

Introduction: Polycystic ovary syndrome (PCOS) is one of the most common causes of anovulatory infertility. Polymorphisms in genes related to follicular recruitment and development, such as the follicle-stimulating hormone receptor (FSHR) and the oestrogen receptor 1 (ESR1) genes, and their impact on biochemical phenotype and response to controlled ovarian stimulation in women with PCOS have been studied in different populations, with inconsistent results.<p class="abstext...

Introduction: Pancreatic islet transplantation is an effective treatment for patients with type 1 diabetes mellitus (T1DM) with unstable metabolic control. However, the quality of islets isolated from a donor is negatively affected by the inflammatory environment related to the donor’s brain death and by the stress related to islet isolation and culture. To overcome islet quality loss, some studies have co-cultured islets with mesenchymal stromal cells (MSCs). Considering...

Introduction: Adrenal hematomas are a relatively rare clinical condition and its prevalence has been reported to be about 1%. Although various causes have been proposed, the ethology and pathophysiology are still not fully understood, and the symptoms range is very variable, from asymptomatic situations to haemorrhagic shock. Imaging is a challenging method to establish the diagnosis of adrenal hematomas, and in most cases, it is only possible after surgery. Surgery is routine...