Searchable abstracts of presentations at key conferences in endocrinology

ea0032p178 | Cardiovascular Endocrinology & Lipid Metabolism | ECE2013

Intestinal cholesterol-transport gene expression is associated with abnormalities in post-prandial endothelial function and carotid intima-media thickness independent of insulin resistance

Widdowson W Matthew , McGowan Anne , Phelan James , Boran Gerard , Reynolds John , Gibney James

Introduction: Intestinal cholesterol absorption is known to be important in post-prandial lipid levels, and implicated in the development of vascular disease. This study evaluated the effect of intestinal gene expression on markers of early vascular disease in a cohort of diabetic and non-diabetic subjects.Methods: Subjects were identified from routine upper GI lists and enrolled as per local ethics approval. Intestinal gene expression was measured on du...

ea0029oc3.5 | Diabetes Clinical | ICEECE2012

Study of toll like receptor 2 and 4 expression in monocytes in type 1 diabetes mellitus with and without micro-vascular complications

Sedek S. , Ahmed W. , Shelbaya S. , Baki R Abd El , Abass M.

Background: Toll-like receptors (TLRS) are a class of proteins that play a key role in the innate immune system. They are single, membrane, non catalytic receptors which are expressed in multiple tissues predominantely cells of the innate immune system especially monocytes. So, they play a critical role in the regulation of immune function and inflammation.Aim of our work: To study the expression of toll-like receptor 2 and 4 on monocytes in T1DM patient...

ea0029oc3.6 | Diabetes Clinical | ICEECE2012

Glucose disorders exert a detrimental effect on total brain volume in the elderly: a 2-year prospective MRI study

Samaras K. , Lutgers H. , Wen W. , Campbell L. , Baune B. , Brodaty H. , Trollor J. , Sachdev P.

Introduction: Long-standing type 2 diabetes (DM) is associated with brain atrophy. In this prospective study we examined the impact of glycaemic status on total brain volume in an elderly cohort.Methods/Design: Two-year follow-up study of a population-derived cohort of non-demented community-dwelling adults aged 70–90 years (Sydney Memory and Aging Study). Prospective MRI and metabolic data were available in 312 of the 542 participants who had a MRI...

ea0029oc16.5 | Female Reproduction Clinical | ICEECE2012

Urinary glucocorticoid metabolite excretion is associated with insulin resistance independent of body mass index (BMI) in patients with polycystic ovary syndrome

O'Reilly M. , Hazlehurst J. , Lebbe M. , Hughes B. , Stewart P. , Tomlinson J. , Arlt W.

Polycystic ovary syndrome (PCOS) is a triad of insulin resistance, hyperandrogenism and anovulation. PCOS is associated with increased adrenocortical drive, which may have adverse metabolic consequences. Here we analysed the relationship of urinary androgen and glucocorticoid metabolite excretion with insulin resistance in a large PCOS cohort.We compared results from 127 PCOS patients (Rotterdam criteria) with 100 BMI-matched controls. All subjects under...

ea0029oc18.4 | Paediatric Endocrinology | ICEECE2012

Mortality in GH-treated (Tx) patients (pts) enrolled in the global genetics and neuroendocrinology of short stature international study (GeNeSIS)

Child C. , Zimmermann A. , Quigley C. , Rosenfeld R. , Robison L. , Blum W.

Preliminary data from the French SAGhE study of 6928 pts with isolated idiopathic GH deficiency (IsIGHD), idiopathic short stature (ISS) or born small for gestational age (SGA) who started GH treatment during childhood (1985–1996) & were followed up in 2009, suggested increased mortality vs the French general population (pop; standardized mortality ratio (SMR): 1.3, 95% confidence interval (CI): 1.1–1.6; 116 403 person-years (PY))1.<p class="abstex...

ea0029p5 | Adrenal cortex | ICEECE2012

Non-radioactive strategies on the diagnosis of congenital adrenal hyperplasia due to 21 hydroxylase deficiency (CAH - 21OHD).

Coeli F. , Turatti W. , Elias P. , Martinelli C. , Moreira A. , Antonini S. , Castro M.

Introduction: Defects in the pseudogene, CYP21A1P, can be transferred to the functional CYP21A2 gene by recombination and account for approximately 95% of CYP21A2 mutations, leading to CAH-21OHD. We conducted a comprehensive genetic analysis to assess whether Multiplex Ligation dependent Probes Amplification (MLPA) could substitute southern blotting with radioactive probes without compromising reliability of the diagnosis.Patients and Methods: We studied...

ea0029p9 | Adrenal cortex | ICEECE2012

Progressive adrenal insufficiency in a patient with 46,XY DSD caused by two novel mutations in the cytochrome P450 side-chain cleavage (CYP11A1) gene

Parajes S. , But B. , Chan A. , Rose I. , Taylor A. , Griffin A. , Dhir V. , Arlt W. , Krone N.

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis. CYP11A1 firstly converts cholesterol into 22R-hydroxycholesterol, which relies on mitochondrial steroidogenic acute regulatory protein (StAR)-mediated cholesterol import. Two further StAR-independent CYP11A1 reactions facilitate pregnenolone biosynthesis. CYP11A1 deficiency is rare and manifests with adrenal insufficiency (AI), and, in 46,XY individua...

ea0029p60 | Adrenal cortex | ICEECE2012

Is isolated secondary adrenal insufficiency more frequent than autoimmune Addison’s disease?

Kasperlik-Zaluska A. , Czarnocka B. , Jeske W. , Papierska L. , Hulting A. , Bensing S. , Crock P. , Kampe O.

Similarly as in autoimmune Addison’s disease (AAD), diagnosed in about 80% of primary adrenal insufficiency, idiopathic isolated secondary adrenal insufficiency (ISAI) seems to have an autoimmune origin.Within the last 35 years we have registered in our Department 325 patients with ISAI (F/M ratio 10.9) aged 17–87 years. In comparison, we have in our registry 241 patients with AAD, collected within over 40 years. The diagnosis of ISAI was based...

ea0029p68 | Adrenal cortex | ICEECE2012

MGMT expression in human adrenocortical carcinoma cell lines and tissues and effects of temozolomide on tumor cell growth.

Koetsveld P. van , Feelders R. , Dogan F. , Dungen R. van den , Herder W. de , Hofland L.

Background: In case of inoperable disease or tumor recurrence, there are only a few medical treatment options for patients with adrenocortical carcinoma (ACC). The oral alkylating drug Temozolomide (TMZ) shows efficacy in a subset of patients with melanoma, glioblastoma or pancreatic neurendocrine tumours. Response to TMZ seems determined by the tumoral expression level of the DNA repair enzyme O(6)-Methylguanine-DNA methyltransferase (MGMT).Aims: To eva...

ea0029p157 | Bone &amp; Osteoporosis | ICEECE2012

The level of Osterix expression in osteoblasts is important to prevent IL6-induced inflammatory-prone state

Baek W. , Kim Y. , Park S. , Kwon T. , Park K. , Kim J.

Osterix (Osx) is an essential transcription factor for osteoblast differentiation and bone formation. Osx null mutants died perinatally with a complete absence of bone formation and Osx conditional knockouts in osteoblasts showed the osteopenic phenotype after birth. Even in Osx heterozygous mice with normal bone morphology, the reduced cortical thickness and osteoblast differentiation were observed by QCT and in vitro cell culture, respectively. This result exhibited t...