Searchable abstracts of presentations at key conferences in endocrinology

ea0034p317 | Reproduction | SFEBES2014

Gestational diabetes and polycystic ovary syndrome

Georgiou Christiana , Mason Helen , Bano Gul

Gestational diabetes mellitus (GDM) poses multiple risks to both the mother and foetus. This includes foetal macrosomia and the development of type 2 diabetes mellitus (T2DM). Women with polycystic ovary syndrome (PCOS) due to their metabolic profile are at greater risk of developing GDM and its long-term sequelae. This study aimed to investigate the prevalence and associations of GDM at St George’s Hospital, with emphasis on women diagnosed with PCOS. The K2 maternal med...

ea0026p102 | Female reproduction | ECE2011

The importance of PIK3R1 gene in polycystic ovary syndrome

Xita N , Chatzikyriakidou A , Georgiou I , Tsatsoulis A

Introduction: Insulin resistance is a main characteristic of polycystic ovary syndrome (PCOS) and contributes to the increased risk of type 2 diabetes and cardiovascular disease. It is thought that in PCOS there is an alteration in the insulin signaling pathway. An important kinase in this pathway is the phosphatidylinositol 3 kinase (PI3K), the activity of which has been found to be decreased in PCOS. Based on this observation we investigated whether a single nucleotide polym...

ea0026p103 | Female reproduction | ECE2011

Effect of paraoxonase genes on metabolic profile of women with polycystic ovary syndrome

Xita N , Lazaros L , Georgiou I , Tsatsoulis A

Introduction: Increased oxidative stress is considered to be implicated in the pathophysiology of polycystic ovary syndrome (PCOS). While the regulation of oxidative stress is multifactorial, many studies have been focused on the antioxidant role of paraoxonase (PON). The aim of this study was to investigate the possible association of the Q192R and the L55M polymorphisms of PON1 and the Ser311Cys polymorphism of PON2 with PCOS.Subjects and...

ea0063p468 | Calcium and Bone 2 | ECE2019

Discovery of a novel CASR mutation causing Familial Hypocalciuric Hypercalcemia in a Greek family

Efstathiadou Zoe , Kostoulas Charilaos , Rottstein Laurentana , Georgiou Ioannis , Kita Marina

Introduction: Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia, which, in general, is not associated with significant morbidity. FHH1, the most common type of the disease, is inherited in an autosomal dominant pattern and caused by inactivating mutations in the Calcium Sensing Receptor (CaSR) gene, located in chromosome 3. Inactivation of CaSR in parathyroid cells results in a shift of calcium set point to higher values with consequent...

ea0063p851 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

True silent pheochromocytoma: description of a rare entity

Adamidou Fotini , Komzia Paraskevi , Mpatsi Ourania , Georgiou Thomas , Kita Marina

Introduction: With the advent of modern imaging, up to 30% of adrenal pheochromocytomas are discovered incidentally in asymptomatic patients. Smaller tumors may be ‘pre-biochemical’ in their secretory capacity, but truly nonfunctioning tumors over 3 cm are exceedingly rare. We describe a case of a clinically and biochemically silent pheochromocytoma.Case report: A 65-year-old woman was found to have a left adrenal incidentaloma on an abdominal ...

ea0063p1163 | Thyroid 3 | ECE2019

Atypical hyperthyroidism in a case of neutrophilic dermatosis (Sweet’s syndrome)

Adamidou Fotini , Komzia Paraskevi , Georgiou Thomas , Kita Marina

Introduction: Sweet’s syndrome is a rare, acute febrile neutrophilic dermatosis, associated with a variety of inflammatory and neoplastic conditions, drug reactions and rarely with a spectrum of thyroid dysfunction. A possible link between thyroid autoimmunity and Sweet’s syndrome has been previously suggested by rare reports of Hashimoto’s thyroiditis, subacute thyroiditis and classic Graves’ disease. We describe a case of ‘atypical’ hyperthyroid...

ea0049ep771 | Clinical case reports - Thyroid/Others | ECE2017

Incidental asplenia in a patient with presumed type 2 autoimmune polyglandular syndrome (APS-2): misclassification or overlap?

Georgiou Thomas , Adamidou Fotini , Mintziori Gesthimani , Kita Marina

Introduction: Asplenia has been reported in 10% of patients with type 1 APS (APS-1), but has never been reported in APS-2. We describe a patient with presumed APS-2 and aplenia.Case report: A 69-year-old woman was diagnosed with B12 deficiency with severe anemia at age 21 and insulin dependent diabetes mellitus at age 33, following routine testing. At 59, she was hospitalized with salt wasting and a diagnosis of Addison’s disease was made, which was...

ea0049ep827 | Thyroid (non-cancer) | ECE2017

Orbital disease primer for Endocrinologists-not always thyroid associated orbitopathy (TAO): a case vignette

Adamidou Fotini , Manani Christina , Anagnostis Panagiotis , Georgiou Thomas , Boboridis Kostas

Background: TAO is a rare disease, seriously involving 5% of patients with autoimmune thyroid disease. The clinical presentation may be difficult to distinguish from other orbital conditions.Case 1: A 63-year-old woman was admitted to the Neurology Service for worsening diplopia over the previous six months, with a working diagnosis of myasthenia gravis or multiple sclerosis. The Endocrine Service was consulted because of a long history of Hashimoto&#146...

ea0070aep450 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

Congenital anomaly of the kidney and urinary tract and mody 5 due to 17Q12 deletion syndrome; a case report

Siolos Athanasios , Merkoviti Maria , Georgiou Ioannis , Siomou Ekaterini , Tigas Stelios

Hepatocyte nuclear factor 1B (HNF1B) defects (mutations or deletion) are associated with amultisystem disorder, including urinary tract abnormalities and diabetes (MODY 5, maturity-onset diabetes of the young type 5). We present the case of a patient with congenital anomalies of the kidney and urinary tract in the context of 17q12 deletion syndrome who several years later, presented with MODY 5. A 20-year-old male presented at the outpatient Endocrine Clinic with new-...

ea0020p362 | Diabetes and Cardiovascular | ECE2009

Klotho gene polymorphism may be a genetic risk factor for metabolic syndrome in men

Katsoulis Constantinos , Chatzikyriakidou Anthi , Xita Nektaria , Georgiou Ioannis , Tsatsoulis Agathocles

Introduction: Klotho has an important role in insulin signaling and the development of ageing-like phenotypes in mice. Recently, the G-395A polymorphism in the promoter region of the human klotho gene has been reported to affect promoter function. It has been also shown to be an independent genetic risk factor for atherosclerotic cardiovascular disease. The aim of this study was to examine the possible role of this polymorphism in the metabolic syndrome....