Searchable abstracts of presentations at key conferences in endocrinology

ea0029p20 | Adrenal cortex | ICEECE2012

Role of adrenal vein sampling in primary aldosteronism. Impact of different diagnostic criteria on subtype diagnosis

Cicala M. , Patalano A. , Salva M. , Miotto D. , Rubin B. , Pezzani R. , Mariniello B. , Mantero F.

In patients with primary aldosteronism (PA), adrenal vein sampling (AVS) is considered the gold standard to distinguish between unilateral and bilateral disease, while diagnostic imaging tests (CT/MRI) are often inconclusive for the diagnosis of PA. To date agreement is lacking on the best criteria indicating successful cannulation and lateralization. Aim of the study was to evaluate the impact of different diagnostic criteria for the successful cannulation and lateralization ...

ea0029p40 | Adrenal cortex | ICEECE2012

The Wnt/Beta-catenin and Ras/Raf/MEK/ERK signaling pathways alterations in adrenocortical tumors

Rubin B. , Pezzani R. , Barollo S. , Mariniello B. , Salva M. , Iacobone M. , Fassina A. , Mantero F.

Adrenocortical tumors (ACT) include benign and malignant tumors. Adrenocortical carcinomas (ACC) are highly malignant neoplasms with a poor prognosis, but their genetic alterations to date identified are limited. Laboratory studies on ACT have revealed a wide variety of signaling pathways involved in these tumors, among these Wnt/β-catenin signaling pathway and Ras/Raf/MEK/ERK pathway resulted often disregulated. Another important factor in many signaling pathways is the ...

ea0029p143 | Bone & Osteoporosis | ICEECE2012

Glucocorticoid - treatment in the adrogenital syndrome due to deficit of 21-hydroxylase: long-term bone side effects

Camozzi V. , Scaroni C. , De Toni P. , Albiger N. , Zaninotto M. , Mantero F. , Luisetto G.

The purpose of this study was to compare bone mineral density (BMD) and bone metabolism in patients suffering from adrogenital syndrome due to deficit of 21-hydroxylase with those of a group of healthy subjects. A longitudinal follow-up was also carried out in a subgroup of patients.Thirty-eight patients 19-47 years old were compared with a group of healthy, age- and sex-matched controls. Sodium, potassium, calcium, phosphorus, parathyroid hormone (PTH),...

ea0029p825 | Endocrine tumours and neoplasia | ICEECE2012

Ouabain as an antiproliferative agent on adrenocortical cell models and on primary adrenocortical tumor cells

Pezzani R. , Rubin B. , Barollo S. , Redaelli M. , Mucignat-Caretta C. , Mantero F.

Ouabain is a cardiotonic steroid belonging to Strophanthus species. Recently its role in the treatment of tumors has been investigated, as ouabain seems to exert antiproliferative effects. Adrenocortical carcinoma (ACC) is a rare cancer, with poor prognosis, of which SW13 and H295R cells could be considered a cellular model.Our aim was to evaluate if ouabain exerts anticancer property.The effects of ouabain were assessed by MTT ass...

ea0009p30 | Diabetes and metabolism | BES2005

Gene polymorphisms related to metabolic and cardiac complications in patients with primary aldosteronism

Ronconi V , Agostinelli L , Turchi F , Rilli S , Mantero F , Giacchetti G , Boscaro M

Primary aldosteronism (PA) is characterized by development of cardiovascular and metabolic complications. We retrospectively analyzed 78 patients with PA: 29 had aldosterone-producing adenoma (APA), and 49 had idiopathic hyperaldosteronism (IHA). The study of complications was performed by examining the lipid and glucose profiles (OGTT, HOMA and Quicki indexes) and the echocardiographic parameters. Single-nucleotide polymorphisms (SNPs) of the aldosterone synthase (minus 344C/...

ea0005p236 | Steroids | BES2003

Regulation of the human 11beta-hydroxysteroid dehydrogenase gene by glucocorticoids

Bedendo O , Bujalska I , Draper N , Walker E , Hewison M , Mantero F , Stewart P

Glucocorticoids regulate transcription of many genes through the binding to the glucocorticoid receptor (GR) however, their intracellular levels are tightly regulated by the microsomal enzyme 11beta-hydroxysteroid dehydrogenase. Two isozymes of this enzyme have been cloned and characterised; 11beta- hydroxysteroid dehydrogenase type 1 (11beta-HSD1) which is mainly expressed in the liver and adipose tissue and 11beta-HSD type 2 expressed in the kidney and placenta. Within 2.5kb...

ea0003p140 | Endocrine Tumours and Neoplasia | BES2002

Growth hormone receptor and type 1 IGF receptor in human somatotroph tumours

Kola B , Korbonits M , Powell M , Metherell L , Czirjak S , Boscaro M , Mantero F , Grossman A

Aim: Clinical acromegaly is characterized by high GH secretion in the presence of high circulating IGF-I levels. We therefore hypothesized that the physiological IGF-I-GH negative feedback loop may be reset in somatotroph adenomas, and we investigated the role of type 1 IGF receptor (IGF-R) and GH receptor (GHR) by quantifying mRNA expression in somatotroph tumours, and investigated the possible presence of mutations of the GHR gene.Methods: Pituitary t...

ea0003oc4 | Genetics: New Insights into Endocrine Disease | BES2002

Analysis of novel mutations in the HSD11B2 gene: Implications for AME and possibly IUGR

Lavery G , Ronconi V , Draper N , Chalder S , Walker E , Mcternan C , Mantero F , Hewison M , Stewart P

Mutations in the HSD11B2 gene explain the syndrome of apparent mineralocorticoid excess (AME), which is characterised by severe hypokalemic hypertension. The enzyme product of the HSD11B2 gene, 11-beta hydroxysteroid dehydrogenase type 2 (11beta HSD2), converts cortisol to its inactive form, cortisone. This reaction occurs primarily in the kidney, preventing the mineralocorticoid effects of cortisol, and in the placenta where it is believed to regulate fetal growth by protecti...

ea0029p138 | Bone & Osteoporosis | ICEECE2012

Vertebral fracture risk and bone metabolism in patients with addison’s disease

Camozzi V. , Betterle C. , De Caneva E. , Lucato P. , Piccolo M. , Zaninotto M. , Silvia G. , Rizzati S. , Mantero F. , Luisetto G.

Forty seven patients suffering from Addison’s disease (AD: 12 males and 35 females, 44.5±12.7 year old) were compared with 63 normal age-, sex- and BMI-matched subjects.The duration of disease ranged from 0.6 to 44 years (10.23±9.07 years). AD had received a cumulative dose of cortisone acetate of 290.5±326.8 g, equivalent to a daily dose of 44.5±15.5 mg, and to 26.34±10.57 mg/m2 of body surface. AD had average va...

ea0011p528 | Endocrine tumours and neoplasia | ECE2006

Characterization of familial non-syndromic pheochromocytoma

Opocher G , Schiavi F , Iacobone M , Sattarova S , Erlic Z , Martella M , Mian C , Zambonin L , De Lazzari P , Murgia A , Favia G , Mantero F

Hereditable forms account for 30–40% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.The proband #1 had a bilateral pheo when 32 and a local recurren...