Endocrine Abstracts

Introduction: Somatostatin analogues (SSAs) are the mainstay of treatment for carcinoid syndrome (CS)-related symptoms. Controversy still exists regarding the extent of the efficacy of this intervention. The purpose of the systematic review and meta-analysis was to evaluate the percentage of patients achieving partial (PR) or complete response (CR) with the use of SSAs (lanreotide, octreotide, pasireotide) in patients with CS. Due to lack of uniformity and established criteria...

Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D have been described in 50% of aldosterone producing adenomas (APA). To identify genetic alterations in new genes, we performed whole exome sequencing in 23 patients with APA negative for recurrent mutations in known driver genes. A low number of somatic variations were identified per patient, ranging from 1 to 22. N...

Objectives: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affects the bones. The underlying mechanism is usually a disorder of connective tissue due to lack of type I collagen. Usually, the disease is due to mutations in the COL1A1 or COL1A2 genes. The disease is inherited in an autosomal dominant manner or occurs via a de novo mutation. There are eight types of the disease. Type I is the most common and the least sever type and is due to mutation in...

Background: Many patients with differentiated thyroid cancer (DTC) are treated with radiodine (I-131) after thyroidectomy, while they are hypothyroid and all are submitted to withdrawal of LT4 periodically for the evaluation of their disease. Among the tests used for follow-up is serum thyroglobulin (Tg) as a tumor marker, and occasionally, total body scan with I-131. Maximal sensitivity of the aforementioned tests is established in the hypothyroid state, under elevated thyrot...

Introduction: Thyroid cancer is one of the most common malignancies of the endocrine system and displays a variety of histological patterns. The understanding of the molecular pathogenesis and the identification of molecular markers which will be used for diagnosis and prognosis is of high clinical significance. The most common molecular alterations include BRAF and RAS point mutations and RET/PTC and PAX8/PPARγ rearrangements. The pres...

Introduction: Fine needle aspiration biopsy (FNAB) is the initial investigation of choice for thyroid nodules.Methods: A total of 563 patients (106 males/457 females) underwent FNAB for the same number of thyroid nodules. Their mean age was 56.1±14.1 years. We correlated the demographic profile (age and gender) and sonographic features of these nodules with the FNAB outcome. The Bethesda system for reporting thyroid cytopathology was used.<p cla...

The role of brown adipose tissue (BAT) in pathological states of energy homeostasis and impaired adipocyte function, such as obesity has been a major area of research interest in recent years. Herein, we sought to determine the direct effects of adipokines, visfatin and leptin on BAT thermogenesis. The effects of mouse recombinant visfatin, nicotinamide mononucleotide (NMN) and leptin with or without FK866 were studied on differentiated T37i cells. Treated cells were analyzed ...

Objective: Somatic mutations in the GNAS1 gene, which encodes the alpha-subunit of G stimulatory proteins (gsp), are frequently detected in somatotroph pituitary tumors and have been associated to specific clinical-smaller and less invasive tumors occurring in older patients- and histopathological-densely granulated adenomas- characteristics. However, the question whether the presence of a somatic gsp mutation affects the response to somatostatin analogue treatment remains unr...

Background: Although IV steroids are the treatment of choice for moderate-to-severe graves orbitopathy (M-S GO), the most efficacious regimen is not yet defined. Cases not responding or relapsing after steroid treatment (STx) are not uncommon and STx can cause serious adverse events. The aim of the present study is to define the steroid regimen which balances between efficacy and damage, using stir-sequence orbital-MRI (SsMRIo) as an additional objective tool for the evaluatio...

Introduction: The majority of adrenal neoplasms are benign while adrenocortical carcinomas (ACC) are rare with poor prognosis. Previous studies indicated that estrogens play important role in the etiology and progression of adrenocortical tumors. Estrogens exert genomic activities trough the estrogen-receptor (ER) subtypes α and β, while the non-genomic effects are mediated by membrane-bound-G-protein-coupled-ER-30 (GPR30). Although estrogens induce cancer cell ...