Endocrine Abstracts

Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives.Objective: To emphasize the importance of the appropriate use of clinical, biochemical and genetic investigations for the correct classification of diabetes etiology.Case-report: A 35-year-old overweight Latin-American male was diagnosed ...

The liver produces and secretes sex hormone–binding globulin (SHBG), which transports sex steroids and regulates their access to tissues. Body mass index is a major determinant SHBG concentration in the blood of men and women. Low plasma SHBG levels are associated with obesity and predict the development of type 2 diabetes and cardiovascular disease. The reason why obese individuals have low circulating SHBG has been attributed to hyperinsulinemia, but no mechanistic evi...

Adamantinomatous craniopharyngioma (ACP) is a paediatric pituitary tumour that is associated with high morbidity due to the tendency of the tumour to infiltrate locally into surrounding brain structures such as the hypothalamus and visual tracts. We have developed mouse models for human ACP, which we are using to better understand the pathogenesis of these human tumours as well as to test novel targeted treatments. Using advanced imaging techniques such as X-ray computed tomog...

Adamantinomatous craniopharyngioma (ACP) is an epithelial intracranial lesion arising from Rathke’s pouch with a median age at diagnosis of 8 years. ACP is the third most common paediatric brain tumour, accounting for approximately 5–13% of brain tumours, and the commonest pituitary tumour among children. Although histologically benign, ACP often behaves aggressively with invasion of the hypothalamus and visual pathways. Consequences associated with both the tumour a...

Activating mutations in the gene encoding β-catenin have been identified in the paediatric form of human craniopharyngioma (adamantinomatous craniopharyngioma, ACP), an aggressive pituitary tumour accounting for up to 10% of paediatric intracranial tumours. Recently, we generated an ACP mouse model and revealed that, as in human ACP, nucleocytoplasmic accumulation of β-catenin (βcat-nc) and over-activation of the Wnt/β-catenin pathway occurs only in very fe...

Our hospital has a referent population of 50 000 people in a rural area. We have made a retrospective study about ambulatory outpatients who had been diagnosed with subclinical hyperthyroidism.Objectives: To describe and analyze the characteristics of these patients, the treatment they received, the relationship beween TSH and goiter, complementary image tests and evolution.Material and methods: This is a descriptive study about pa...

Children and young people (CYP) with Type 1 Diabetes who maintain a healthy BMI, diet and accurate carbohydrate-counting have lower risk of cardiovascular disease and diabetes complications. The tracking of key Diabetes health checks and outcomes via the National Paediatric Diabetes Audit (NPDA) has been successful in ensuring year-on-year improvement of national average HbA1c. Aside from BMI however, Dietetic-specific outcomes are not currently included in the NPDA. Therefore...

Lymphangiogenesis is a very important event in breast cancer development and VEGF-C and D factors play an essential role in this process. Tumoral invasion of lymphatic vessels facilitates metastasis formation and is a bad pronostic marker in this pathology. Although the thyroid hormone receptors (TRs) are ubiquitously expressed in normal tissues, inactivation and mutations of the TRβ gene are usual events in breast cancer, suggesting that the native receptors could act as...

Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...

We investigated the SNP rs16944 in German type 2 diabetes (T2D) patients and healthy controls (HC) and correlated the findings with concentrations of VD metabolites.Methods: 504 T2D patients and 447 HC were genotyped by a Taqman assay. Additionally 25(OH)D3 and 1,25(OH)2D3 plasma levels of 76 T2D patients and 267 HC were measured by radioimmunoassay.Results: The AA genotype was significantly less fr...