Searchable abstracts of presentations at key conferences in endocrinology

ea0045oc5.7 | Oral Communications 5- Endocrine | BSPED2016

Frequent occurrence of DUOX2 and DUOXA2 mutations in cases with borderline bloodspot screening TSH who develop ‘True’ congenital hypothyroidism

Peters Catherine , Nicholas Adeline K. , Lyons Greta , Langham Shirley , Serra Eva G. , Schoenmakers Erik , Muzza Marina , Fugazzola Laura , Schoenmakers Nadia

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

ea0090ep778 | Pituitary and Neuroendocrinology | ECE2023

Induction of secondary sexual characteristics with gonadotropins in an adult male with Kallman syndrome

Boix Jose Vicente Gil , Soler Guillermo Serra , Cubas Javier Bodoque , Raczkowski Meritxell Vines , Sanchez Alicia Sanmartin , Peris Andreu Campos , Font Mercedes Noval , Povedano Santiago Tofe , Jimenez Inaki Arguelles

Introduction: Hypogonadotropic hypogonadism is the cause of sexual deficiency, sometimes difficult to differentiate from constitutional growth delay (CGD).Clinical case: A 19-year-old male consulting endocrinology for delayed puberty. Pointed to, at 13 years of age, as having had CGD. His medical report include a viral meningitis at 8 years of age and anosmia since 3 years of age. He expressed lack of sexual desire and concern about the size of his genit...

ea0090ep1151 | Late Breaking | ECE2023

Non-functioning adenomas submitted to surgery: clinical characterization and outcomes

Dias Daniela , Matos Tania , Silvestre Catarina , Serra FIlipa , Palha Ana , Lucas Neto Lia , Tavares Ferreira Joana , Subtil Joao , Tortosa Francisco , Sagarribay Amets , Sapinho Ines

Introduction: Nonfunctioning pituitary adenomas (NFPAs) are a heterogeneous group of tumors with different presentations. Clinical management of these tumors is complex. Our aim was to evaluate the clinical characteristics/postsurgical outcomes of NFPAs and to identify predictive factors of good response to surgery.Methods: Retrospective analysis of NFPA, who underwent surgery and followed in our hospital, from 2015-2022.Results: W...

ea0063p269 | Pituitary and Neuroendocrinology 1 | ECE2019

Diabetes insipidus and diabetes mellitus type 2 diagnosed at the same time in a male with langerhans cell histiocytosis

Barcelo Carlos Antich , Soler Guillermo Serra , Font Mercedes Noval , Ribas Elena Mena , Povidano Santiago Tofe , Jimenez Inaki Arguelles , Fernandez Honorato Garcia , Macazaga Vicente Pereg

Introduction: Langerhans cell histiocytosis (LCH) is a rare systemic disease. Diabetes insipidus is the most frequent endocrine alteration and occurs mostly after diagnosis. Others are hypogonadism, growth hormone deficiency (GHD) and alterations in glucose metabolism.Clinical case: A 61-year-old smoker, diagnosed with LCH 9 years ago with pulmonary and hepatic involvement, without treatment, who consulted for asthenia, unquantifiable polyuria, polydipsi...

ea0049gp238 | Thyroid Cancer & Thyroid Case Reports | ECE2017

A fatal case of fetal goiter: autoimmunity is the key

Berges-Raso Irene , Albert Lara , Caixas Assumpta , Capel Ismael , Cano Albert , Mazarico Isabel , Serra Laura , Corona Manuel , Martinez Cesar Martin , Rigla Mercedes

Introduction: Fetal goiter is an infrequent and potentially life-threating condition derived from either fetal hypothyroidism or hyperthyroidism. TSH-receptor stimulating antibodies (TSH-R-ABs) can cross the placenta and induce fetal hyperthyroidism and goiter. We describe a rare case of TSH-R-ABs-induced hyperthyroidism in a woman with autoimmune hypothyroidism (AH) without previous hyperthyroidism.Case Report: A 28 years old pregnant woman under treatm...

ea0049ep294 | Calcium & Vitamin D metabolism | ECE2017

Severe hypocalcemia induced by Denosumab in a patient with Osteroporosis after malabsorptive bariatric surgery

Portilla Ana Jimenez , Soler Guillermo Serra , Planella Juan Ramon Urgeles , Perez Maria Soledad Gogorza , Font Mercedes Noval , Fernandez Honorato Garcia , Jimenez Inaki Arguelles , Macazaga Vicente Pereg

Introduction: Denosumab is a monoclonal antibody indicated in the treatment of postmenopausal osteoporosis. Hypocalcemia is a rare adverse effect.Case report: We present the case of a 58-year-old woman with a clinical history of bariatric surgery in 2001 and osteoporosis with multiple vertebral and hip fractures. Under treatment with Zinc sulphate, Vitamin A, 25-OH-vitamin D, calcium and iron. She came to the A&E for general malaise, generalized weak...

ea0041ep427 | Diabetes (to include epidemiology, pathophysiology) | ECE2016

Characterization of a pediatric population with type 1 diabetes at transition to adult health care

Oliveira Joana , Domingues Mariana , Belo Sandra , Caetano Joana Serra , Cardoso Rita , Dinis Isabel , Baptista Nanci , Freitas Paula , Carvalho Davide , Mirante Alice

Introduction: Type 1 diabetes (T1D) is an important endocrine disease in the pediatric age group. The shift from pediatrics to adult health care providers is a critical period for adolescents with diabetes.Objective: Characterization of a pediatric population with T1D moved to adult health care between January/2001–April/2015.Methods: Cross-sectional study with retrospective analysis of medical records.R...

ea0037ep246 | Calcium and Vitamin D metabolism | ECE2015

Hypocalcaemia due to 22q11.2 deletion syndrome diagnosed in adulthood

Vidal Maria Cabrer , Soler Guillermo Serra , Wos Marzena , Perez Maria Soledad Gogorza , Jimenez Inaki Arguelles , Povedano Santiago Tofe , Ribas Elena Mena , Fernandez Honorato Garcia , Macazaga Vicente Pereg

Introduction: Hypocalcaemia is present in half of the patients with 22q11.2 deletion syndrome (DiGeorge-velocardiofacial syndrome). Most of these cases are diagnosed during childhood.Case report: A 56-year-old man was evaluated for symptomatic hypocalcaemia after undergoing a left nephrectomy because of renal tumour. He had paraesthesia around his mouth and hands and Trousseau’s sign. His past medical history included high blood pressure, type 2 dia...

ea0070aep729 | Pituitary and Neuroendocrinology | ECE2020

Characterization of epithelial-mesenchymal transition in growth hormone-secreting adenomas

Gil Joan , Marques-Pamies Montserrat , García-Martínez Araceli , Serra Guillermo , Webb Susan , Antonio Sampedro-Nunez Miguel , Pico Antonio , Marazuela Monica , Jorda Mireia , Puig-Domingo Manel

First generation somatostatin receptor ligands (SRL) are the first-line drugs in primary acromegaly treatment or after surgical failure in patients with active acromegaly. In previous studies we confirmed the association of the expression of SSTR2, Ki67 and E-cadherin (CDH1) in responsive GH-secreting adenomas response to SRL. Moreover, E-cadherin showed a greater predictive capacity than most of the markers described. Loss of E-cadherin is a typical mark of ...

ea0014p219 | (1) | ECE2007

Prevalence of metabolic syndrome in old men and its relation to ghrelin

Alfaro Sergio Rueda , Serra-Prat Mateu , Fernández Cristián Fernández , Palomera Elisabet , Casamitjana Roser , Domingo Manel Puig

Aim: To study the prevalence of metabolic syndrome (MS) and its relation with ghrelin in old men.Material and methods: Prospective-population based study (2002–2005) in which 153 independently living men older than 70 y were included. Comorbidities, physical exam, BMI, blood pressure were recorded and blood sample taken for biochemical and hormonal determinations. Metabolic syndrome was defined using IDF criteria.Results: MS w...