Searchable abstracts of presentations at key conferences in endocrinology

ea0033oc1.9 | Oral Communications 1 | BSPED2013

Genetic characterisation of short children with potential defects of GH action by single gene sequencing

Kowalczyk Julia , Gevers Evelien F , Savage Martin O , Dunkel Leo , Metherell Louise A , Storr Helen L

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...

ea0032p581 | Female reproduction | ECE2013

Differences in adrenocortical steroid response to ACTH in women with post-adolescent severe acne and PCOS

Cinar Nese , Cetinozman Fatma , Aksoy Duygu yazgan , Elcin Gonca , Yildiz Bulent O

Introduction: Increased adrenocortical production appears to be associated with acne and hirsutism in PCOS. However, the etiological role of androgens in the pathogenesis of acne per se is far from being clear. In the present study, we aimed to evaluate adrenocortical function in women with post-adolescent severe acne in comparison with patients with PCOS and healthy women.Design: The study included 32 women with post-adolescent severe acne, 32 ...

ea0031p196 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2013

Cellular consequences for insulin signal transduction of the naturally occurring AKT2 p.Glu17Lys mutation

Minic Marina , Rocha Nuno , Challis Ben , Groeneveld Matthijs , Rahilly Stephen O' , Semple Robert

Introduction: We have reported a syndrome of hypoketotic hypoglycaemia due to the de novo p.Glu17Lys mutation in AKT2, a serine threonine kinase central to insulin signalling. We aimed to evaluate further the physiological and cellular consequences of the p.Glu17Lys mutation.Results: Two previously reported 17-year-old men heterozygous for the AKT2 p.Glu17Lys mutation, each of whom had experienced severe fasting hypoglycaemia in early life, were...

ea0029oc11.6 | Thyroid Clinical 2 | ICEECE2012

Is age a risk factor for hypothyroidism in pregnancy? An analysis of 5223 pregnant women

Potlukova E. , Potluka O. , Jiskra J. , Limanova Z. , Telicka Z. , Bartakova J. , Springer D.

Introduction: The guidelines of American Thyroid Association from 2011 include age over 30 as one of the risk factors for hypothyroidism in pregnancy. The aim of our study was to verify whether age increases the risk of autoimmune thyroid diseases (AITD) in pregnant women.Methods: We performed a cross-sectional study in 5223 unselected consecutive pregnant women in the 9th–12th gestational weeks. In a single laboratory, we measured serum concentrati...

ea0029oc14.6 | Male Reproduction | ICEECE2012

Erectile dysfunction after liver transplantation

Levalle O. , Chavez L. , Descalzi V. , Gruz F. , Mormandi E. , Kogovsek N. , Aszpis S. , Otero P.

Despite it’s believed that sexual function may improve after liver transplantation (LT), many patients complain about unsatisfactory sexual life. There are few longitudinal data on the endocrine changes which occur after liver transplantation.Aim: To evaluate erectile sexual dysfunction (ESD) prevalence and factors associated with its development, especially with relation to the status of sex steroids. Patients and Methods: 54 post-LT male patients ...

ea0029oc16.4 | Female Reproduction Clinical | ICEECE2012

Epidemiological survey on the prevalence of hyperandrogenic states in adolescent and young women

Gambineri A. , Prontera O. , Fanelli F. , Repaci A. , Di Dalmazi G. , Pagotto U. , Pasquali R.

The aim of this epidemiologic study, performed in a wide population of high-school students in Northern Italy, was to obtain an unbiased estimate of the prevalence of hyperandrogenic states in adolescents and young females.2052 female students, aged 15–19 years, were consecutively contacted. 939/2052 (45.8%) refused to participate in the study, but 431 of the 939 non-participants (45.9%) agreed to fill out a brief questionnaire aimed to broadly asse...

ea0029p48 | Adrenal cortex | ICEECE2012

MicroRNA profiling of benign and malignant adrenocortical tumors reveals potential biomarkers of recurrence

Chabre O. , Assie G. , Libe R. , Bertherat J. , Feige J. , Cherradi N.

Objective: To identify miRNAs predictors of poor prognosis in adrenocortical cancer.Methods: Using microarrays, we evaluated the expression of 728 human miRNAs in six adenomas (ACAs) and twelve carcinomas (ACCs). The ACC group was composed of two subgroups A and B consisting of six recurrent (subgroup A) and six non-recurrent tumors (subgroup B). These two distinct subgroups have been characterized recently (de Reynies et al, 2009) on the basis of distin...

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...

ea0029p214 | Calcium & Vitamin D metabolism | ICEECE2012

Lack of effects of high dose colecalciferol (D3) on insulin sensitivity and metabolic markers in type 2 diabetic patients: a double-blind, randomised, placebo-controlled trial

Kampmann U. , Mosekilde L. , Schmitz O. , Moller N. , Christensen B. , Wamberg L. , Orskov L.

Introduction: Vitamin D insufficiency is common in subjects with type 2 diabetes. Observational studies suggest that vitamin D plays a role in the pathogenesis of type 2 diabetes. However, results of intervention studies have been inconsistent. We investigated the effects of improving vitamin D status on insulin sensitivity and inflammatory markers in type 2 diabetic patients with vitamin D insufficiency.Methods: A double blind, randomized, placebo contr...

ea0029p322 | Cardiovascular Endocrinology and Lipid Metabolism | ICEECE2012

Duration effect of statin therapy on bone metabolism in dyslipidemic patients

Cvijanovic O. , Crncevic-Orlic Z. , Bicanic N. , Celic T. , Bobinac D. , Klobucar S.

Statins are cholesterol-lowering drugs decreasing bone resorption by inhibition of the farnesyl diphosphate synthase step in the mevalonic acid pathway and therefore are believed to have beneficial effects on bone status. Objective is to examine the relationship between lipid status and duration of statin therapy on the bone metabolism in dyslipidemic patients. A hundred and sixty subjects were divided into five groups depending on duration of statin therapy: (controls 0 years...