Searchable abstracts of presentations at key conferences in endocrinology

ea0035p792 | Obesity | ECE2014

Metabolic and hypertension control in diabetic patients submitted to bariatric surgery

Fonseca Ricardo , Duarte Joao Sequeira , Serra Filipa , Moniz Catarina , Ferreira Rute , Gouveia Clotilde , Oliveira Manuela , Saraiva Antonio Machado

Background: Type 2 diabetes and Hipertension are common in obese patients. Bariatric surgery is effective in sustained weight loss, but also improves glycemic and hypertension control. A high percentage of diabetes remission occurs.Methods: Retrospective study of type 2 diabetic patients submitted to bariatric surgery between 2006 and 2013 in a central hospital. Primary endpoint was evaluation of diabetes and hypertension remission, 2 years after surgery...

ea0070aep849 | Reproductive and Developmental Endocrinology | ECE2020

Aminoacidic residues discriminating human choriogonadotropin (hCG) and luteinizing hormone (LH) binding to the human receptor (LHCGR)

Lazzaretti Clara , Secco Valentina , Paradiso Elia , Sperduti Samantha , Rutz Claudia , Kreuchwig Annika , Krause Gerd , Simoni Manuela , Casarini Livio

The human luteinizing hormone (LH)/choriogonadotropin (hCG) receptor (LHCGR) discriminates its two hormone ligands. LHCGR differs to the murine receptor (Lhr) in aminoacid residues potentially involved in qualitative discerning of LH and hCG, the latter absent in rodents. We aim to identify LHCGR residues involved in hCG/LH discrimination, indicating evolutionary determinants of human LH/hCG endocrine system. After comparing the LHCGR and Lhr sequences, we developed eight ...

ea0070aep880 | Thyroid | ECE2020

Clinical practice survey on BRAF V600E role in the therapeutic decision in indeterminate thyroid cytology

Brigante Giulia , Craparo Andrea , Pignatti Elisa , Marino Marco , Casarini Livio , Sperduti Samantha , Boselli Gisella , Margiotta Gianluca , Rochira Vincenzo , Simoni Manuela

Introduction: The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the commonest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice.Aim: To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing th...

ea0032p84 | Bone and Osteoporosis | ECE2013

Effects of treatment for acromegaly on bone mineral density: is pegvisomant protective on lumbar BMD?

Brigante Giulia , Santi Daniele , Diazzi Chiara , De Vincentis Sara , Ferrannini Giulia , Madeo Bruno , Carani Cesare , Simoni Manuela , Rochira Vincenzo

Background: GH–IGF1 status is important for bone health. Acromegaly affects bone status, but less is known on the role of treatments for acromegaly on bone mineral density (BMD). Pegvisomant (Peg) is effective in treating acromegaly by reducing IGF1. As serum GH is not influenced by Peg, it is not known if residual, direct GH effects on bone (not IGF1 mediated) are preserved during treatment.Methods: To evaluate the effects of Peg on BMD, we compare...

ea0032p254 | Clinical case reports – Pituitary/Adrenal | ECE2013

Recurrent pituitary tumor: the importance of a functional classification at diagnosis

Moreno Carolina , Paiva Isabel , Gomes Leonor , Ruas Luisa , Gouveia Sofia , Saraiva Joana , Guelho Daniela , Carvalheiro Manuela , Carrilho Francisco

Introduction: Pituitary tumors can be classified according to their endocrine function, starting from the clinical phenotype to establish a diagnosis. The histological analysis can confirm the clinical suspicion. A thorough classification is essential in the therapeutic approach with an important influence in the disease-free survival.Case report: We report a case of a 16-year-old male, with loss of visual acuity and headache, attended by an Ophthalmolog...

ea0032p267 | Clinical case reports – Pituitary/Adrenal | ECE2013

Treatment dilemmas of Cushing disease: case report

Saraiva Joana , Paiva Isabel , Alves Marcia , Gouveia Sofia , Moreno Carolina , Guelho Daniela , Gomes Leonor , Carvalheiro Manuela , Carrilho Francisco

Introduction: Cushing’s disease (CD) is a Grave disease that requires a multidisciplinary and individualized treatment approach.Case report: We describe the case of a 31-years old female patient with Cushing disease diagnosed in 2007. She initially complained of weight fluctuations, amenorrheia, rounded face with plethora and acne, for 1 year duration. Analytically: 0800 h plasma cortisol of 14 μg/dl (5–25) and 2300 h 15 μg/dl, ACTH 1...

ea0032p421 | Diabetes | ECE2013

Type 1 diabetes and pregnancy: importance of glycemic control in maternal and perinatal outcomes

Moreno Carolina , Ruas Luisa , Paiva Sandra , Marta Elvira , Gouveia Sofia , Saraiva Joana , Guelho Daniela , Moura Paulo , Carvalheiro Manuela , Carrilho Francisco

Introduction: Type one diabetes is estimated to account for 1% of the pregnancies complicated by diabetes, associated with an increased risk of maternal and perinatal morbidity. The multidisciplinary follow up of the diabetic women can contribute to an improvement of the glycemic control, minimizing the obstetric and perinatal complications.Aims: To characterize pregnant women with type one diabetes followed in our Department’s Endocrinology/Obstetr...

ea0032p640 | Male reproduction | ECE2013

Complete aromatase deficiency in four adult men: detection of a novel mutation and two known mutations in the CYP19A1 gene

Pignatti Elisa , Unluhizarci Kursad , Kartal Ermine , Ajlouni Kamel , Khawaja Nahla , Carani Cesare , Marino Marco , Simoni Manuela , Vighi Eleonora , Rochira Vincenzo

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...

ea0032p954 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Radiotherapy in the management of pituitary functioning adenomas: a single-center experience

Moreno Carolina , Paiva Isabel , Gomes Leonor , Ruas Luisa , Gouveia Sofia , Saraiva Joana , Guelho Daniela , Carvalheiro Manuela , Carrilho Francisco

Introduction: Radiation therapy is an effective treatment for relapsing or recurrent pituitary functioning adenomas, providing tumor volume control and hormone secretion normalization. However, there are several secondary effects to consider.Aims: To assess the efficacy of radiotherapy in the management of patients with acromegaly and Cushing’s disease (CD) treated in our Department, and the prevalence of radiation secondary effects.<p class="ab...

ea0032p1088 | Thyroid cancer | ECE2013

Pre-miR146a expression profiling of follicular thyroid carcinoma

Pignatti Elisa , Vighi Eleonora , Roncati Luca , Kara Elda , Porcheddu Eleonora , Magnani Elisa , Rochira Vincenzo , Maiorana Antonino , Carani Cesare , Simoni Manuela

Introduction: Follicular thyroid carcinomas (FTC) are the second most common type of thyroid malignancy. Micro-RNAs (miRNAs) are a new class of small, noncoding RNAs whose expression is deregulated in many types of human cancers and may lend novel clues to FTC genesis. Pre-miR146a represents one of the most up-regulated miRNAs in papillary thyroid carcinomas (PTC) and a SNP (rs2910164), identified in pre-miR146a, contributes to genetic predisposition to PTC, but data on FTC ar...