Endocrine Abstracts

TSH receptor (TSHR) is a G-protein-coupled seven-transmembrane domain receptor located in the basolateral membrane of thyroid follicular cells. The activated receptor couples to two major signal transductions pathways: the Gs/adenylate cyclase and the Gq/11/phospholipase C signalling. Many loss of function mutations have been identified in this gene leading to a wide spectrum of thyroid abnormalities, ranging from hyperthyrotropinemia and TSH resistance to severe hypothyroidis...

Introduction: CBG is the main transport protein for glucocorticoids in blood. CBG gene is a member of the serine protease inhibitor family, located at chromosome 14q32. Inherited CBG deficiency (MIM 611489) is a rarely recessive disorder, and the phenotype associated includes low cortisol levels, presence of normal ACTH levels, hypotension and fatigue, although the exact pathophysiological mechanisms involved remain uncertain. We identified a family with a complex phe...

Introduction: Three peptides, acylated ghrelin (AG), unacylated ghrelin (UAG) and obestatin are derived from a common prohormone, preproghrelin by posttranslational processing, originating from endocrine cells in the stomach. Circulating ghrelin levels are decreased in obese subjects and increased by fasting and in patients with anorexia nervosa, but the physiological role of the three peptides is poorly understood in particular in childhood.Aim: In orde...

Introduction: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome, first identified in 1967 by Refetoff, characterized by reduced organ responsiveness to thyroid hormone. The most typical pattern being an elevated serum free T4 (fT4) concentration in association with non-suppressed TSH, usually accompanied by high serum levels of free T3 (fT3), with a considerable inter-individual variation and heterogeneous phenotype. The most frequent defect which causes R...

Key circulating molecules that link the emerging role of vitamin-D to pediatric obesity and its co-morbidities remain unclear. To identify potentially involved regulators, this study analyzed plasma proteoma from obese children dichotomized by 25OH-vitamin D (25OHD) levels and upon vitamin-D3 therapy in 25OHD deficient subjects.A total of 42 obese children (M/F=18/24, bmi>95° centile) were selected and divided according to 25OHD levels into defi...

Introduction: Neuroendocrine tumors (NET) represent a heterogeneous group of tumors with different locations, whose management is based on the pathology, immunohistochemical, genetic and molecular profile.Materials and method: We followed 8 patients with NET between 2014 and 2022 registered at the “C.I. Parhon” National Institute of Endocrinology, Bucharest, who benefited from peptide receptor radionuclide therapy (PRRT). Among them, 75% were m...

Introduction: The neuroendocrine tumor of the ampulla of Vater represent a very rare disease, corresponding up to 2% of the periampullary malignancies and less than 1% of gastrointestinal NET. Less than 130 patients have been reported until 2013. The biological and clinical behavior is very unpredictable especially if it’s associated with another tumor, like adenocarcinoma. We present a case of a fifty-one-years-old woman who complained of weight loss, jaundice, abdominal...

Background: Immune checkpoint inhibitors have revolutionized the treatment of metastatic melanoma, demonstrating durable responses, but can result in immune-related adverse events (irAEs). Endocrinopathies are amongst the more common adverse events, and thyroid dysfunction and hypophysitis being the most frequent; the latter of these has been positively correlated with oncological outcome. This study compared overall survival (OS), progression-free survival (PFS) and disease c...

Background: Immune checkpoint inhibitors have revolutionized the treatment of metastatic melanoma, demonstrating durable responses, but can result in immune-related adverse events (irAEs). Endocrinopathies are amongst the more common adverse events, and thyroid dysfunction and hypophysitis being the most frequent; the latter of these has been positively correlated with oncological outcome. This study compared overall survival (OS), progression-free survival (PFS) and disease c...

The expression of key molecules involved in fundamental cell processes and epigenetic gene expression modulation is altered in human parathyroid tumours, due to gene mutations, loss of heterozygosity, aberrant gene promoter methylation, DNA copy number variations. We performed a gene profiling of 26 parathyroid tumorigenesis-related genes in a series of 32 sporadic parathyroid adenomas (PAds) surgically removed from patients with primary hyperparathyroidism, with the aim to de...