Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1319 | Paediatric endocrinology | ICEECE2012

Insulin like growth factor-I (IGF-I) levels and metabolic parameters in a population of obese children and adolescents

Prodam F. , Bellone S. , Ricotti R. , Pozzi E. , Balossini C. , Genoni G. , Walker G. , Aimaretti G. , Bona G.

Introduction: The risk association between the insulin like growth factor-1 (IGF1) and cardiovascular risk is inconclusive in adults and under-explored in the pediatric population. We aimed to investigate the associations between serum concentrations of IGF1 and cardiovascular risk factors in obese children and adolescents.Methods: Cross-sectional study. Clinical and metabolic evaluations including an oral glucose tolerance test (OGTT) were performed at ...

ea0019oc12 | Neuroendocrine and Steroids | SFEBES2009

Absence of hexose-6-phosphate dehydrogenase specifically induces skeletal myopathy in mice

Semjonous N , Lavery G , Walker E , Stewart P

Murine 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1) catalyses the conversion of inactive 11-dehydrocorticosterone (A) to active corticosterone (B) and plays a key role in metabolic homeostasis. The directionality of this enzyme is dependent upon the presence of NADPH, a cofactor produced by hexose-6-phosphate dehydrogenase (H6PDH). In accord with this, H6PDH KO mice have no reductase and increased dehydrogenase activity of 11βHSD1. Interestingly, H6PDH KO m...

ea0029p1427 | Pituitary Clinical | ICEECE2012

Control of GH and IGF1 in acromegaly in the UK: responses to medical treatment

Howlett T. , Willis D. , Walker G. , Wass J. , Trainer P. , UK National Acromegaly Register Investigators

UK National Acromegaly Register collects data on real-life clinical practice in 34 centres. We analysed all GH and IGF1 data to assess adequacy of control on medical treatment (Rx) with somatostatin analogs (SMS) and dopamine agonists (DA).Methods: All GH records (basal, profile or GTT) in database were correlated with IGF1, Rx, surgery (TSS) and radiotherapy (RT), then processed to derive summary data for each patient and each course of Rx. GH considere...

ea0029p1230 | Obesity | ICEECE2012

Proteomic analysis identifies adiponectin as a key plasma protein associated to vitamin D deficiency in pediatric obesity

Walker G. , Prodam F. , Ricotti R. , Riccomagno S. , Moia S. , Roccio M. , Bellone S. , Genoni G. , Petri A. , Bona G.

Key circulating molecules that link the emerging role of vitamin-D to pediatric obesity and its co-morbidities remain unclear. To identify potentially involved regulators, this study analyzed plasma proteoma from obese children dichotomized by 25OH-vitamin D (25OHD) levels and upon vitamin-D3 therapy in 25OHD deficient subjects.A total of 42 obese children (M/F=18/24, bmi>95° centile) were selected and divided according to 25OHD levels into defi...

ea0029p1285 | Paediatric endocrinology | ICEECE2012

ACTH and cortisol are differently associated with metabolic syndrome components in a large cohort of Caucasian obese children and adolescents

Ricotti R. , Prodam F. , Bellone S. , Walker G. , Parlamento S. , Savastio S. , Genoni G. , Agarla V. , Aimaretti G. , Bona G.

Introduction: Higher cortisol levels and, in particular, hyperactivity of the HPA axis might play a role in the development of MS at least in adults. Data on the pediatric age are scanty.Aim of our study was to evaluate ACTH and cortisol association with MS, its components, phenotypic parameters, family history of metabolic derangements in pediatric obesity.Methods: Cross-sectional study. 271 Caucasian overweight or obese children ...

ea0005p249 | Steroids | BES2003

Mutations in the HSD11B2 gene causing AME in the Oman population

Atterbury A , Draper N , Lavery G , Walker E , DeSilva V , Taylor N , Hala S , Rajendra N , Bappal B , Stewart P

Mutations in the HSD11B2 gene explain the syndrome of apparent mineralocorticoid excess (AME), which is characterised by severe hypokalaemic hypertension. Cortisol acts as a mineralocorticoid through failure of its inactivation to cortisone by 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2). Patients are diagnosed by a raised THF+allo-THF/THE ratio. To date, approximately 30 mutations have been described in HSD11B2. Recently, three apparently unrelated kindreds with A...

ea0004p50 | Endocrine tumours and neoplasia | SFE2002

No activating point mutation in Cyclin-Dependent Kinase 4 (CDK4) in pituitary adenomas, insulinomas and Leydig cell tumours

Bibi R , Diaz-Cano S , Vax V , Gueorguiev M , Kola B , Bressac B , Walker G , Grossman A , Korbonits M

BACKGROUND: Cell cycle dysregulation is one of the defining features of cancer. Cyclin-dependent kinase 4 (CDK4), together with its regulatory subunit Cyclin D, governs cell cycle progression in G1 phase. CDK4 is in turn regulated by cyclin-dependent kinase inhibitors, including p16INK4A (CDKN2A). Dysregulation of the INK4A/CDK4/cyclin D complex has been established in different a variety of types of human tumours. Dominant mutations affecting codon 24 of the CDK4 gene (replac...