Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is a rare tumor of the adrenals with poor prognosis (survival rate for metastatic patients <15% at 5 years). Mitotane (o,p′-DDD) is the main therapeutic option with up to 66% objective response rates in patients with serum levels between 14 and 20 mg/l. Its two main metabolites are o,p′-DDA and o,p′-DDE which plasma levels are not correlated to therapeutic response. Mitotane is a lipophilic drug that accumulate...

Introduction: Neuroendocrine tumors (NET) are rare tumors originating from various types of neuroendocrine cells. The somatostatin receptor type 2 (sst2) is expressed in NET cells and is a target for therapy with somatostatin analogues.Epigenetic changes including methylation of DNA at CpG dinucleotides, and particularly in the promoter region of genes can inhibit transcription. Methylation can be inhibited by cytidine analogues such as 5-aza-...

Increasing evidence has recently accumulated suggesting that IGF1 system is involved in the regulation of longevity. While in animal models alterations of IGF1 signalling increase life expectancy, in humans there are contradictory data. Centenarians are an extraordinary model to study human longevity, however, they present a number of drawbacks: rarity, frailty due to extreme age and lack of a control group of the same age. The availability of an age-matched control group is c...

Background: The mechanism underlying the spontaneous improvement of rheumatoid arthritis (RA) during pregnancy and the subsequent post-partum flare is incompletely understood. The glucocorticoid receptor (GR) polymorphisms Bcl1 and 9β are associated with an increased and decreased glucocorticoid sensitivity respectively. We examined the relation between carriership of these functional GR polymorphisms and disease course during pregnancy and post-partum in RA...

Most kindreds of familial isolated pituitary adenomas (FIPA) with mutated AIP develop somatotropinomas, characterized by an aggressive clinical phenotype including early age at diagnosis, large tumours and frequent invasiveness. In non-family cases, the prevalence of AIP mutations in pituitary adenomas is lower than 10%. There is no information of AIP prevalence in isolated somatotropinomas characterized by poor response to conventional treatment.Aim: To...

Introduction: Thyroid nodules in children and adolescents are less prevalent, but entail greater risk of malignancy than in adults. Most are asymptomatic because they are associated with normal thyroid function, but their prevalence is increasing due to the incidental diagnosis by neck ultrasound.Aims: To evaluate the characteristics of a pediatric population with thyroid nodules submitted to fine-needle aspiration (FNA) biopsy.Met...

Introduction: Gilbert syndrome is one of the most common inherited diseases, with a prevalence of 5–7%. It is caused by a mutation in UGT1A1 gene, which is in turn responsible for a deficiency in bilirubin glucuronidation. It courses with unconjugated hyperbilirubinemia, and jaundice may occur in adolescence, after fasting, exercise, or in menses, and also with certain drugs. Individuals with Gilbert syndrome seem to have a reduction in the prevalence of micro- and macrov...

Background: Individuals born Small for Gestational age (SGA) are at high risk of development of type 2 diabetes. Growth hormone (GH) therapy can also adversely affect glucose metabolism.Aim: To explore the factors associated with changes in insulin sensitivity (IS) and insulin secretion during one year of GH treatment in children born SGA.Methods: In the NESGAS clinical trial, we studied 82 (55♂) pre-pubertal children (age 3....

Congenital hyperinsulinism (CHI) is characterised by unregulated insulin secretion from pancreatic β-cells. The most severe forms are associated with defects in SUR1 and Kir6.2 (encoded by ABCC8 and KCNJ11), which form KATP channels in β-cells. Diazoxide therapy often fails in the treatment of CHI and may be due to reduced cell surface expression of KATP channels. We investigated methods to increase surface expression of KATP<...

Background: Insulin resistance and obesity are characteristic features of PCOS. Oxidative stress leads to the formation of lipid peroxidation products in the skeletal muscles and has the potential to interfere with insulin signaling and thereby contribute to insulin resistance. Malondialdehyde (MDA) is a lipid peroxidation end product and is widely used as a marker of oxidative stress.Rimonabant has been shown to reduce weight and insulin resistance in o...