Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp126 | Endocrine Case Reports | ECE2018

Acromegaly and acromegaloidism, two rare insulin-resistance conditions in one patient: reason for GH-IGF-1 discrepancy?

Freitas Paula , Guerreiro Vanessa , Bernardes Irene , Pereira Josue , Silva Roberto Pestana , Fernandes Susana , Carvalho David

Introduction: Lipodystrophies are a group of genetic or acquired diseases characterized by abnormal adipose tissue deposition, frequently associated with insulin resistance, diabetes mellitus, dyslipidaemia, hypertension and hepatic steatosis. Congenital generalized lipodystrophy (LCG) is a well-defined syndrome with autosomal recessive heredity, prevalence <1:10million, with about 400 cases being described. Extreme shortage of subcutaneous adipose tissue, muscle hypertrop...

ea0056p375 | Diabetes (to include epidemiology, pathophysiology) | ECE2018

HNF-1β maturity-onset diabetes of the young (MODY 5): defining diabetes etiology in a family with different diabetes phenotypes

Silva Carlos , Garcia Elena , Villa Gema , Males David , Romero Juan Carlos , Martinez Guillermo , Leon Miguel

Introduction: HNF-1β maturity-onset diabetes of the young (MODY5) is uncommon, nevertheless accurate diagnosis guides individualized management and informs prognosis in probands and relatives.Objective: To emphasize the importance of the appropriate use of clinical, biochemical and genetic investigations for the correct classification of diabetes etiology.Case-report: A 35-year-old overweight Latin-American male was diagnosed ...

ea0056p379 | Diabetes (to include epidemiology, pathophysiology) | ECE2018

Maternally inherited diabetes and deafness (MIDD): the many faces of the same disease in a Spanish family

Silva Carlos , Garcia Elena , Villa Gema , Martin Alba , Males David , Martinez Guillermo , Leon Miguel

Introduction: Maternally inherited diabetes and deafness (MIDD), is a rare entity. Most commonly, it is related to a point mutation in the mitochondrial DNA (mtDNA) at position 3243 (m.3243A>G) encoding the gene for tRNA. A high index of suspicion is required for the diagnosis due to a wide heterogeneity in its clinical presentation which reflects different levels of mutated mtDNA among mitochondria in a given tissue (heteroplasmy). Thyroid cancer risk has never been speci...

ea0056p583 | Obesity | ECE2018

Temporal analysis of the HFD consumption in the mice small intestine physiology: possible correlation between metabolic disorders and HFD-induced obesity

Coutinho Camille Perella , Alba-Loureiro Tatiana Carolina , Hijo Andressa Harumi Torelli , Goulart-Silva Francemilson

Introduction and aim: Obesity is a public health problem characterized by metabolic and endocrine disorders. Currently, it has been observed an increase of the obesity induced by high fat diet (HFD) and, considering that small intestine is the most important absorptive site of the nutrients, it is very interesting to evaluate the impact of HFD intake on that first place of nutrients entry, that is, the small intestine. Taken into account that dyslipidemia and hypertension are ...

ea0002p16 | Clinical case reports | SFE2001

MASSIVE CHILDHOOD OBESITY IN A PATIENT WITH KLYNEFELTER KARYOTYPE AND PRADDER-WILLY PHENOTYPE

Mendes P , Monteiro L , Cardoso M , Silva C , Santos M , Cunha C , Monteiro T , Ramos M

We report an 18-year-old boy referred to our outpatient clinic at 8 years and 11 months of age with a history of early-onset childhood hiperphagia, infantile central hipotonia and lethargy, mild mental retardation and emotional instability. His height was 125 cm, height SDS = -1 (target height = 169,5 cm, SDS = -0,78) and he weighted 40 Kg (BMI = 25,6;WFH =164%). He had small hands and feet, fat face with prominent forehead, bitemporal narrowing, triangular upper lip, microgna...

ea0045oc6.1 | Oral Communications 6- Endocrine | BSPED2016

The intra- and inter-user reliability of testicular volume estimation – a simulation study

Akbarian-Tefaghi Ladan , De Silva Shamani , Langley Joseph , Stanton Andrew , Wright Neil , Elder Charlotte

Background: Measuring testicular volume (TV) by orchidometer is a standard method of pubertal staging in boys. A paucity of evidence exists as to its inter and intra-user reliability and the impact of clinicians’ gender, training and experience on the accuracy of measurements. Specifically engineered prosthetic models of different size testes were developed to investigate the reliability of TV estimation.Method: The study was conducted over the thre...

ea0073yi11 | Young Investigator Awards | ECE2021

Gβγ-mediated signaling regulates NIS abundance at the plasma membrane

Márcia Faria , João Bugalho Maria , Paulo Matos , Luísa Silva Ana

IntroductionThe Sodium Iodide Symporter (NIS) is responsible for the active transport of iodide into thyroid cells. Most of differentiated thyroid carcinomas (TC) retain the functional expression of NIS, which allows the use of radioiodide (RAI) as the systemic treatment of choice for metastatic disease. Still, a significant proportion of patients with advanced thyroid cancer fail to respond to RAI therapy (refractory-TC), which makes their management ve...

ea0073pep2.1 | Presented ePosters 2: Diabetes, Obesity, Metabolism and Nutrition | ECE2021

MODY 5: a rare cause of diabetes and chronic kidney disease – a report of 10 cases

Amaral Sara , Cláudia Martins Ana , Palha Ana , Bogalho Paula , Agapito Ana , Silva-Nunes Jose

IntroductionMaturity Onset Diabetes of the Young (MODY) affects 1–2% of diabetic patients. Subtype 5 (HNF1β mutation) is rare (~1% of all MODY subtypes) and extra-pancreatic manifestations are often present (chronic kidney disease (CKD), liver disease and/or genitourinary malformations).AimTo report and review confirmed MODY 5 cases in an Endocrinology Department.Meth...

ea0073aep180 | Diabetes, Obesity, Metabolism and Nutrition | ECE2021

Vitamin B12 status and maternal-fetal outcomes among women with gestational diabetes

Gutu Olga , Natércia Candeias , António Afonso , Silva-Nunes Jose

IntroductionVitamin B12 (vB12) deficiency has been associated with a plethora of hematologic, neurologic and metabolic abnormalities. In pregnant women, several studies have demonstrated an association with a greater maternal body mass index (BMI), maternal and offspring insulin resistance, gestational diabetes mellitus (GDM) and even later type 2 diabetes.Aim of the studyEvaluation of maternal and fetal outc...

ea0073aep456 | General Endocrinology | ECE2021

Carney complex – a rare cause of Cushing’s syndrome

Guiomar Joana Reis , Moreno Carolina , Lúcia Fadiga , Diana Alexandra Festas Silva , Paiva Isabel

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...