Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0049ep223 | Bone & Osteoporosis | ECE2017

Fractures at post-partum and lactation: common presentation of different clinical entities

Efstathiadou Zoe , Sykja Albana , Panagiotou Athanasios , Kita Marina

Introduction: Osteoporosis of pregnancy and postpartum is a rare clinical entity, which usually presents with back pain, due to spine fractures. We aimed to describe four different cases presenting with back pain and fractures post-partum, in who, with diverse underlying pathophysiology, recovery time and treatments used.Case 1: A 32-year-old patient presented with intense back pain and difficulty in standing and walking, 2 weeks after delivery. She had ...

ea0037ep284 | Calcium and Vitamin D metabolism | ECE2015

Asymptomatic pulmonary cement embolism after vertebroplasty: a case report

Efstathiadou Zoe A , Karathanassi Eleni , Poulasouchidou Maria , Kita Marina D

Introduction: Vertebroplasty is a commonly performed technique in the management of vertebral compression fractures. However, it is associated with some serious adverse effects. Most complications are related to the leakage of bone cement (polymethylmethacrylate) into the spinal canal or the perivertebral venous system.Case report: A 74-year-old lady was subjected to percutaneous verterbroplasty for osteoporotic compression fractures on T11, T12, L1 and ...

ea0032p214 | Clinical case reports – Pituitary/Adrenal | ECE2013

An unusual case of Cowden-like syndrome, neck paraganglioma and pituitary adenoma

Efstathiadou Zoe , Anagnostis Panagiotis , Sapranidis Michalis , Kita Marina

Introduction: The description of a rare case of papillary thyroid cancer, neck paraganglioma, pituitary adenoma and Cowden-like syndrome.Case report: A 43-year-old woman presented with enlargement of her right thyroid lobe and a palpable ipsilateral neck mass. The pathology examination after operation of the two lesions revealed the synchronous presentation of a papillary thyroid carcinoma and a neck paraganglioma. Patient’s medical history included...

ea0032p247 | Clinical case reports – Pituitary/Adrenal | ECE2013

Occurrence of De Quervain’s thyroiditis after resolution of hypercortisolism following SOM230 treatment for Cushing’s disease and surgery for an adrenocortical adenoma: report of two cases

Efstathiadou Zoe , Sykja Albana , Anagnostis Panagiotis , Panagiotou Athanasios , Kita Marina

Introduction: Increased prevalence of thyroid autoimmunity has been described in few cases after successful treatment for Cushing’s syndrome. In De Quervain’s thyroiditis (DQT) autoimmunity does not seem to play a primary pathogenetic role.We describe two cases of DQT coinciding with the resolution of hypercortisolism, after successful treatment of Cushing’s syndrome/disease.Case 1: A 41-year-old female with Cushing&...

ea0032p285 | Clinical case reports - Thyroid / Others | ECE2013

Maturity onset diabetes of youth (MODY) in a patient with VATER syndrome

Anagnostis Panagiotis , Efstathiadou Zoe , Poulasouchidou Maria , Kita Marina

Introduction: VATER syndrome is a rare, usually sporadic, entity, including ≥2 of the following: vertebral defects (V), anal atresia (A), tracheoesophegeal fistula, esophageal atresia (TE) and radial or renal dysplasia (R).Maturity onset diabetes of youth (MODY) is a usually non-insulin-dependent type of monogenic diabetes mellitus (DM), usually in adults <25 years, with autosomal dominant inheritance, without the features of metabolic syndrome...

ea0063p467 | Calcium and Bone 2 | ECE2019

Discovery of a novel NOTCH2 mutation causing Hajdu Cheney Syndrome in a kindred with remarkable phenotypic diversity

Efstathiadou Zoe , Kostoulas Charilaos , Polyzos Stergios , Kalograni Fani , Tirkalas Sotirios , Adamidou Fotini , Georgiou Ioannis , Kita Marina

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...

ea0063p718 | Pituitary and Neuroendocrinology 2 | ECE2019

A rare case of a TSH/GH secreting pituitary macroadenoma

Gogakos Apostolos , Efstathiadou Zoe , Tsirou Efrosini , Lypiridou Sofia , Mintziori Gesthimani , Kostopoulos Ioannis , Foroglou Nikolaos , Kita Marina

Introduction: Thyrotropin (TSH) secreting pituitary adenomas (TSHomas) are very rare and account for less than 2% of all pituitary adenomas. They present with elevated levels of fT4 and normal to high levels of TSH. About 25% of TSHomas co-secrete other anterior pituitary hormones. Growth hormone (GH) is the most commonly co-secreted hormone, followed by prolactin (PRL) and gonadotropins. Herein, we report a case of pituitary adenoma with simultaneous secretion of TSH and GH.<...

ea0063p1073 | Pituitary and Neuroendocrinology 3 | ECE2019

Diagnostic challenges in Ectopic Cushing’s Syndome: report of 2 cases

Komzia Paraskevi , Efstathiadou Zoe , Karaiskos Theodoros , Tirkalas Sotiris , Gogakos Apostolos , Kita Marina

Introduction: Ectopic Cushing’s Syndrome (ECS) accounts for 5-10% of all cases of endogenous hypercortisolism. ACTH secreting intrathoracic masses is the most common cause of ECS. We present two patients with ectopic Cushing’s syndrome, with particularities in diagnosis.Case 1:: A 59-year-old female presented with arterial hypertension, and osteoporosis, along with weight gain and facial plethora, starting two years before. Screening tests were...

ea0063p1158 | Thyroid 3 | ECE2019

Cosmetic complaints in patients with thyroid disease

Mintziori Gesthimani , Veneti Stavroula , Panagiotou Athanasios , Adamidou Fotini , Efstathiadou Zoe , Kita Marina

Introduction: Patients with benign thyroid disease may present an impaired Quality of Life (QoL). However, evidence of cosmetic complaints in patients with thyroid disease is limited. The aim of the current study was to investigate the cosmetic complaints of patients with thyroid disease and determine any associations with specific clinical characteristics.Methods: A cross-sectional study was performed. Patients with benign thyroid disease who attended t...