Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 2

Endocrine Oncology

hrp0082p2-d3-487 | Endocrine Oncology | ESPE2014

The Cytotoxic Ability of NK Cells in Children with Autoimmune Thyroiditis

Kucharska Anna , Popko Katarzyna , Osinska Iwona , Demkow Urszula

Background: In autoimmune thyroiditis type Hashimoto the key role in thyrocytes destruction plays the spontaneous cytotoxic activity of T cells, and antibodies dependent mechanisms are of a less value. A spontaneous cytotoxicity is associated with the number and degree of activity of NK cells. An important role in this process plays perforin contributed in permabilization of target cells.Objective and hypotheses: The aim of the study was to evaluate the ...

hrp0082p2-d3-488 | Endocrine Oncology | ESPE2014

High Prevalence of Diabetes Mellitus Among Patients with APS Type 1 in Russia

Orlova Elizaveta , Sozaeva Leila , Zilberman Lubov , Svetlova Galina , Kareva Maria , Ivanova Olga , Peterkova Valentina

Background: Diabetes mellitus (DM) is one of ‘minor’ components of autoimmune polyglandular syndrome type 1 (APS1). The prevalence of DM in APS1 varies from 2.5 to 18% in different populations.Objective and hypotheses: To study disease phenotype and genotype of APS1 patients with DM.Method: All patients diagnosed with DM were selected from the Russian registry of APS1 patients. Clinical data, AIRE-gene mutations and immun...

hrp0082p2-d3-489 | Endocrine Oncology | ESPE2014

Immunogenetics and Clinical Characteristics of Patients with the Most Common Organ-Specific Autoimmune Diseases: Evaluation in Respect of Gender and Autoimmunity

Karaoglan Murat , Keskin Mehmet , Keskin Ozlem , Ozturk Sibel

Background: Most of autoimmune disease such as type 1 diabetes (T1DM), autoimmune thyroiditis (AIT) and coeliac disease (CD) often coexist in the same patient. Although there are a lot of number of studies on autoimmunity against the thyroid glands and small bowel in patients with type 1 diabetes, little is known about pancreatic β-cell immunity in patients with AIT and CD.Objective and hypotheses: We studied autoimmune markers in children patients ...

hrp0082p2-d3-490 | Endocrine Oncology | ESPE2014

Genetic Susceptibility in Autoimmune Polyglandular Syndrome Type 3 Variant

Babiker Amir , Gadi Iman Al , Jurayyan Nasir Al , Mohamed Sarar , Al Otaibi Hessah , Hussain Khalid

Background: Autoimmune polyglandular syndrome type 3 (APS3) comprises a wide spectrum of autoimmune endocrine disorders other than adrenal insufficiency. It includes the association of autoimmune thyroid disease (ATD) with type 1 diabetes (T1D) which is known as APS3 variant (APSA3v). Genes linked to possible joint susceptibility for APS3v have been reported in few cases. We report a 10-year-old girl with Graves’ disease (GD) who developed T1D after 6 years of the diagnos...

hrp0082p2-d3-491 | Endocrine Oncology | ESPE2014

Autoimunne Thyroiditis in Type 1 Diabetes Mellitus Pediatric Population

Gomes Clara , Andrade Joana , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

hrp0082p2-d3-492 | Endocrine Oncology | ESPE2014

Autoimmune Polyglandular Syndrome in a Patient with Tuberous Sclerosis

Stoppa-Vaucher Sophie , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder involving many organ systems. The frequency of TS is around one per 5000 to 10 000 live births and is caused by mutation in the TSC1 or TSC2 genes. Autoimmune polyglandular syndrome type 2 (APS2) is an endocrinopathy characterized by two or more autoimmune diseases. Several susceptibility genes are known. The prevalence of APS2 is around 1:20 000.Object...

hrp0082p2-d3-493 | Endocrine Oncology | ESPE2014

Role of Metformin in the Treatment of Hypothalamic Obesity

Gangadharan Arundoss , Didi Mohammed , Pizer Barry , Howell Lisa , Hayden James , Mallucci Conor , Pettorini Benedetta , Blair Joanne C

Background: Disruption of homeostatic functioning of the hypothalamic centres results in hyperphagia, autonomic imbalance, reduction of energy expenditure, and hyperinsulinemia. A syndrome of rapid, unrelenting weight gain is often observed in patients with structural lesions of the hypothalamus. Hypothalamic obesity syndrome (HOS) is often refractory to standard dietary and lifestyle interventions. It has been reported that metformin induces anorectic effects via an increase ...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

hrp0082p2-d3-495 | Endocrine Oncology | ESPE2014

Early Occurrence of Graves’ Disease After Severe Hypothyroidism in Boy Irradiated for Hodgkin’s Disease

Cantelmi Grazia , Grandone Anna , Luongo Caterina , Affinita Maria Carmela , Micillo Flora , Ficociello Carmine , Indolfi Paolo , Casale Fiorina , Miraglia del Giudice Emanuele , Perrone Laura

Background: Thyroid dysfunction is a well-known endocrine complication after cervical irradiation for Hodgkin’s lymphoma (HL). The most common are primary hypothyroidism (20–30%), central hypothyroidism, transient thyroiditis and thyroid cancer. Graves’ disease (GD) is less frequent (5%).Objective and hypotheses: We describe a boy, already diagnosed with thyroiditis, who developed GD during follow-up for severe hypothyroidism following rad...

hrp0082p2-d3-496 | Endocrine Oncology | ESPE2014

Endocrine Dysfunction Following Treatment of Medulloblastoma: a Single Centre Experience

Uday Suma , Raju Midhu , Alvi Sabah

Introduction: Medulloblastoma is the commonest paediatric brain tumour and accounts for 20–30% of all brain tumours in the first decade of life. Improvements in treatment strategies have enhanced long-term survival resulting in an increased risk of late sequelae.Aim: Review the prevalence of endocrine dysfunction in survivors of medulloblastoma at a single centre.Methods: Case note review of patients treated for medulloblastom...

hrp0082p2-d3-497 | Endocrine Oncology | ESPE2014

Gonadal Tumor in 46,XY and 45,X/46,XY Female Patients: One Clinical Center Experience

Gawlik Aneta , Antosz Aleksandra , Kudela Grzegorz , Drosdzol-Cop Agnieszka , Zachurzok Agnieszka , Matusik Pawel , Kaminska Halla , Koszutski Tomasz , Malecka-Tendera Ewa

Background: The incidence of gonadal tumor development varies significantly between subsets of patients with disorder of sex development (DSD). In some female patients with Y chromosome too early gonadectomy is perceived as overtreatment.Objective and hypotheses: The aim of the study was to analyze the gonadal tumor incidence in DSD female patients with 45,X/46,XY or 46,XY.Method: 15 patients, managed at single institution between ...

hrp0082p2-d3-498 | Endocrine Oncology | ESPE2014

A Rare Brain Tumor in Noonan Syndrome: Report of Two Cases

Pellegrin Maria Chiara , Tornese Gianluca , Cattaruzzi Elisabetta , Blank Eva , Kieslich Matthias , Ventura Alessandro

Background: Noonan syndrome (NS) is a congenital polymalformative disorder caused by aberrant up-regulated signalling through RAS GTPase. Although NS is associated with hematologic malignancies, no predisposition for neuronal tumors was reported so far.Objective and hypotheses: We describe two cases of young patients with NS and dysembryoplastic neuroepithelial tumor (DNET). This is the first case series reporting a rare type of intracranial tumor in NS....

hrp0082p2-d3-499 | Endocrine Oncology | ESPE2014

GH-Secreting Pituitary Adenoma with Gigantism: a Challenging Case

Chinoy Amish , Ismail Dunia , Kalitsi Jennifer , Gordon Nadia , Bullock Peter , Kapoor Ritika , Aylwin Simon , Buchanan Charles

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....