Searchable abstracts of presentations at key conferences in endocrinology

ea0081p146 | Pituitary and Neuroendocrinology | ECE2022

Central Diabetes Insipidus, family report, molecular study, and its importance

Filipe Sa Luis , Sousa Rafaela , Villela Darine , Cavalcanti Thereza , Migliavacca Michele , Fontes Rosita , Guimaraes Marilia , Souza Micheline , Coelho Paula , Botelho Mariana , Nascimento Joao , Carvallo Mirna , Viveiros Pedro , Lourenco Jr Delmar , Naliato Erika , Violante Alice

Introduction: Central diabetes insipidus (CDI) occurs due to deficient secretion of arginine vasopressin (AVP) or antidiuretic hormone (ADH) by the posterior pituitary. It is a rare disease with an estimated prevalence of 1:25000. CDI can be acquired or congenital, secondary to malformation or genetics. Familial CDI (genetic inheritance) is mainly autosomal dominant. More than 80 mutations in the AVP gene have been described. In hereditary CDI, the age of onset is variable. Sy...

ea0022p594 | Neuroendocrinology and Pituitary (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Efficacy and safety of combined treatment with somatostatin analogues (SA) AND pegvisomant (PEG) in acromegalic patients resistant to SA

Auriemma Renata S , Grasso Ludovica F S , Galdiero Mariano , De Martino Maria C , Cozzolino Alessia , Vitale Pasquale , Colao Annamaria , Pivonello Rosario

The GH-receptor antagonist PEG, used as monotherapy or in combination to SA, has been demonstrated to normalize IGF1 levels in up to 90% of acromegalic patients after unsuccessful surgery and/or radiotherapy and resistant to conventional SA treatment. The aim of this study is to evaluate the efficacy and safety of combined treatment with SA plus PEG in a cohort of acromegalic patients resistant to conventional SA therapy. Thirty-two acromegalic patients (17 M, 15 F, age 39.6&#...

ea0011p545 | Endocrine tumours and neoplasia | ECE2006

Acute biliary tract problems are common on discontinuation of somatostatin analogue (SA) therapy

Paisley AN , Roberts ME , Trainer PJ

The prevalence of gallstones (GS) is increased in acromegaly and is further increased by somatostatin analogue (SA) therapy. The incidence has variously been reported to be between 10 and 63%, but they are often asymptomatic and rarely require definitive management. However, there is evidence suggesting that discontinuation of SA therapy may precipitate acute biliary problems.We have analysed our experience of symptomatic gallstones in all 44 patients (2...

ea0041ep595 | Endocrine tumours and neoplasia | ECE2016

Biochemical assessment of disease control in acromegaly: reappraisal of the glucose suppression test in somatostatin analogue (SA) treated patients

Arlien-Soborg Mai C. , Alvarson Elin , Dal Jakob , Jorgensen Jens Otto L.

Context: The nadir serum GH level during glucose suppression (OGTT) is recommended in patients treated by surgery, but not during SA treatment. We have shown that patients considered controlled by SA don’t suppress serum GH during OGTT and have impaired disease-specific QoL as compared to patients controlled by surgery. We hypothesize SA treated patients also don’t suppress GH in response to mixed meals.Aim: To compare GH levels during two mixe...

ea0003p212 | Reproduction | BES2002

Phenotype and insulin resistance (IR) in polycystic ovary syndrome (PCOS) among South Asians (SA) and Caucasians (C): Is there a difference?

Wijeyaratne C , Balen A , Barth J , Belchetz P

Background: PCO is more prevalent among SA than C and IR is central to its pathogenesis; whilst Type 2 diabetes (DM) is commoner in SA. We compared the phenotype and IR in South Asian and Caucasians with PCOS.Methods: Comparison of consecutive anovular PCOS; 47 SA and 36 Caucasians and their age and weight matched controls (11 SA and 22 Cs).Results: SA presented earlier (age 26 plus/minus 4 v 30.1 plus/minus 5, p = 0.005). BMI (24....

ea0037ep1263 | Clinical Cases–Thyroid/Other | ECE2015

Graves' disease in a mediastinal mass presenting after total thyroidectomy for nontoxic multinodular goitre

Cunha Filipe , Rodrigues Elisabete , Oliveira Joana , Vinhas Luis , Carvalho Davide

Introduction: Thyrotoxicosis after total thyroidectomy (TT) is mostly iatrogenic. Rarely, an hyperfunctional thyroid remnant or ectopic tissue may be the cause. We report a case of Graves’s disease in a mediastinal thyroid mass presenting 7 years after TT for nontoxic goitre.Case report: A 67-year-old woman presented with palpitations, fatigue and weight loss. She had a history of TT for nontoxic multinodular goitre at the age of 60 without any sign...

ea0049ep267 | Calcium &amp; Vitamin D metabolism | ECE2017

Acute pancreatitis as the first presentation of primary hyperparathyroidism

Vieira Alexandra , Ferreira Marta , Guelho Daniela , Pereira Teresa , Silva Luis Filipe , Ferreira Estela , Inacio Ana

Background: Hypercalcaemia due to primary hyperparathyroidism is a rare cause of acute pancreatitis, with a reported prevalence of 1.5–8%.Clinical case: A 25-year-old male patient was referred to the Endocrinology outpatient clinic for hypercalcemia diagnosed in the context of acute pancreatitis. He had medical and surgical pathological antecedents of: clavicle fracture after car accident, cholecystectomy and appendectomy, gastroesophageal reflux di...

ea0037ep124 | Steroids, development and paediatric endocrinology | ECE2015

Haploinsufficiency of the SHOX gene associated with mosaicism 45,X/46,XY with chromosome Y ring as causes of delayed growth and puberty

Martins Diana , Baptista Carla , Bastos Margarida , Garabal Ana , Sa Joaquim , Moreno Carolina , Guelho Daniela , Vicente Nuno , Cardoso Luis , Balsa Margarida , Oliveira Diana , Carrilho Francisco

Introduction: The height growth is regulated by multiple factors, including specific genetic mutations that ensure correct differentiation and proliferation of chondrocytes. We present a case of double association of haploinsufficiency of the SHOX gene with a mosaic 45,X/46,X,r(Y) karyotype responsible for growth and pubertal delay.Case: Male patient, observed in endocrinology consultation at age of 12, with constitutional delay of grow...

ea0041ep381 | Clinical case reports - Thyroid/Others | ECE2016

Undetectable HbA1C in a case of Thalassemia major: misuse of diagnostics became a boon for the patient

Das Sa

Objective: To report a case of thalassemia major diagnosed per chance when investigated for undetectable HbA1C.Clinical Presentation: A 2-year-old male patient presented with fever since 3 days and moderate pallor. His blood was sent to Biochemistry laboratory for the estimation of HbA1C. Later on it was found that there was no indication for this test in this case. When assayed, his haemoglobin (Hb)A1C was not detectable on a BioRad D10 HPLC ...

ea0032p568 | Endocrine tumours and neoplasia | ECE2013

Therapy with 177Lu marked somatostatin analogues in a case of pancreatic metastatic neuroendocrine tumor

Belo Sandra , Lucena Ines , Santos Ana Paula , Afonso Luis Pedro , Sanches Cristina , Duarte Hugo

Introduction: Conventional systemic therapies have limited role in metastasized neuroendocrine tumors (NET). Therefore an increasing role is attributed to 177Lu labeled somatostatin analogues (SA).Case: Man, 52 years, referred because of NET, diagnosed following liver biopsy for hepatic nodules (liver tissue infiltrated by NET, compatible with metastases). Endoscopic ultrasound revealed pancreatic nodular formation, 40×24 mm; 99</sup...