Endocrine Abstracts

Introduction: Primary parathyroid carcinoma accounts for less than 1% of the parathyroid gland tumours and almost always presents as primary hyperparathyroidism. Very few Turner syndrome patients have been reported so far to present with primary hyperparathyroidism secondary to parathyroid adenoma. We report a case of parathyroid carcinoma in a 59 years old lady with Turner syndrome who is presenting with recurrent mild hypercalcemia.Case presentation: A...

Women with Turner’s syndrome (TS) have been reported to have 11.5% relative risk of type 1 diabetes mellitus (DM) and 4.3% relative risk of type 2 DM. However, it is now evident that the traditional categorisation of DM may not be appropriate in this condition as the defect of glucose homeostasis often presents in young non-obese women. In fact, the pattern of insulin secretion in TS seems more likely to be due to beta cells dysfunction or insufficiency, which is reminisc...

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semapho...

Introduction: The approach for initial thyroid hormone suppression in patients who undergo surgery for differentiated thyroid cancer (DTC), is based upon the risk of disease recurrence. In particular, recent American Thyroid Association guidelines suggest to maintain TSH levels between 0.1 and 0.5 mU/l and less than 0.1 mU/l for patients with ‘intermediate’ and ‘high’ risk respectively. The aim of the study is to identify the major predictive factors of LT4...

X-linked hypophosphatemic rickets (XLH) is associated with mutations in PHEX, upregulation of FGF23, leading to hypophosphatemia, abnormal bone development and short stature. H-MAB to FGF23, Burosumab, is the new therapy for XLH. Among PHEX mutations, c.1586+6T >C, partially destroying the splice-site, is presumably associated to a mild phenotype not described so far. We describe two siblings bearing the PHEX c.1586+6T >C variant. Cas...

Introduction: Postoperative upper digestive endoscopy seems to give conflicting results in literature after obesity surgery. Some stressed on the frequency of major digestive lesions such as esophagitis, cancer or endo brachy esophagus (EBO) especially after Sleeve Gastrectomy (SG). The incidence of EBO after SG was found in 1.2% to 15% at ten years of follow up. Accordingly to European Guidelines, it is mandatory to perform a routinely preoperative gastroscopy but not after s...

Aim: To analyze the effects of inositol administration on parameters related to glucose homeostasis.Material and methods: Systematic review and meta-analysis of articles published in Medline or Web of Science Until February 1, 2016. We included studies that met the following criteria: i) Randomized controlled clinical trials of inositol/inositol isomer supplementation against placebo in parallel design, ii) performed in humans, iii) with information abou...

Arterial hypertension is a major cardiovascular risk factor. Detection of secondary forms of hypertension is key to targeted management and prevention of cardiovascular complications. Primary aldosteronism (PA) is the most common and curable form of secondary arterial hypertension and has an estimated prevalence of ~10% in referred patients and 5% in primary care. PA results from autonomous aldosterone production from the adrenal cortex, caused in the majority of cases by a un...

Introduction: The aim of this report is to present the uncommon clinical presentation of a patient with a pancreatic NET.Case report: A 55-year-old man with personal history of hypertension, dyslipidaemia, and depression. He was referred to the outpatient for high levels of calcium in repeated assessments during the last year. He referred polyuria and polydipsia. Not clinical history of bone fractures, abdominal pain, or another digestive symptoms. Initi...

Background: Takotsubo cardiomyopathy (TC) is characterised by acute, transient left ventricular apical ballooning precipitated by emotional or physiologically stressful stimuli and has been previously associated with Graves’ disease based on few clinical reports. More recently, the association with exogenous thyrotoxicosis and radioiodine-induced thyroiditis has also been described. Iatrogenic hyperthyroidism on patients under levothyroxine replacement therapy for hypothy...