Searchable abstracts of presentations at key conferences in endocrinology

ea0002p79 | Reproduction | SFE2001


Monteiro M , Cardoso H , Vargas G , Mendes P , Sergio A , Santos M , Santos C , Ramos H

Objectives: To evaluate changes in gonadotrophins, total (TT) and free (FT) testosterone, SHBG, insulin and c-peptide levels during weight lost after bariatric surgery.Material and methods: Seven (n=7) patients submitted to bariatric surgery for treatment of severe obesity were followed-up over time. Before surgery mean age was 32,857 (19-56) years old, mean weight was 170,571 kg (± 37,362) and mean BMI was 58,824 kg per m2(± 14,...

ea0035p312 | Clinical case reports Thyroid/Others | ECE2014

Diagnosis of neonatal diabetes mellitus in the mother through the detection of hyperglycemia in her child

Torres Isabel , Santos M Angeles , Castano Luis

Introduction: Neonatal diabetes mellitus (NDM) is a rare disease diagnosed within the first months of life that is usually permanent in 50% of cases. Heterozygous mutations of KCNJ11 and ABCC8 genes encoding the two Kir6.2 and SUR1 subunits of the b-cell ATP-dependent potassium channel have been associated with NDM, which is characterized by a successful response to sulfonylureas.Case report: We present a 32-year-old woman diagnosed wit...

ea0026p637 | Clinical case reports | ECE2011

Diabetes and A1C. How a hemoglobin variant affect A1C test: a case report

Alves M , Bastos M , Ribeiro M , Santos J , Vieira A , Gouveia S , Saraiva J , Carvalheiro M

Introduction: Glycated hemoglobin A1c (A1C) is used for diagnosis and monitoring diabetic patients. The precision of A1C assay methods is affected by the presence of hemoglobin variants. About 7% of world population is asymptomatic carrier of these variants.Case report: PCIMR, woman, 42 years old, caucasian, followed in consultation for obesity, primary hypothyroidism and bipolar disorder. Had family history of obesity and sudden death of her father at 5...

ea0026p732 | Diabetes (epidemiology, pathophysiology) | ECE2011

Relationship between diabetes and pancreatic cancer

Alves M , Bastos M , Santos J , Vieira A , Gouveia S , Saraiva J , Carvalheiro M

Background: Pancreatic cancer (PC) is rare, representing 6.8% of mortality in our country. Diabetes mellitus (DM) is often associated. Main hypothesis include: PC triggers DM; DM is a risk factor for PC; diabetes treatment modifies cancer risk.Objective: To evaluate DM and PC association.Methods: Evaluation of patients with PC (2006–2009), divided into: group A (without DM) and group B (with DM). Parameters evaluated: age, gen...

ea0002p16 | Clinical case reports | SFE2001


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...

ea0005p119 | Endocrine Tumours and Neoplasia | BES2003

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) in Romany families from Portugal is due to a founder mutation of parafibromin

Cavaco B , Guerra L , Carvalho D , Bradley K , Harding B , Kennedy A , Santos M , Sobrinho L , Thakker R , Leite V

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...

ea0004p25 | Clinical case reports | SFE2002


Vargas G , Monteiro M , Santos A , Calhim I , Pina R , Correia M , Lopes V , Carvalho R , Ramos H

Background: Fungal infections are a rare cause of primary adrenal insufficiency, raising difficulties in the diagnostic and therapeutic approaches.Case report: A 56 years old diabetic male, who lived in Guinea in 1968, was referred to our inpatients clinic because of a 7,7x3 cm adrenal incidentaloma. He presented with hyperpigmentation, postural symptoms, weakness, fatigue, anorexia and weight loss.The rapid ACTH stimulation test h...

ea0004p63 | Endocrine tumours and neoplasia | SFE2002

Asymptomatic neuroendocrine pancreatic tumours associated with Multiple Endocrine Neoplasia type 1: what to do?

Monteiro M , Carvalho R , Cavaco B , Cardoso H , Castro R , Santos M , Costa M , Correia M , Ramos H

Background: The screening of patients and relatives for the presence of inactivating mutations of the MEN 1 gene, established quite accurately those for prospective detection of neoplasms. Active search for pancreatic lesions has increased the detection of neuroendocrine pancreatic tumours (NEPT) at early ages, most asymptomatic and with no signs of malignancy at diagnosis.Case Report: We describe one kindred where five members were identified as carrier...

ea0003p224 | Reproduction | BES2002

Improvement of hyperandrogenism and insulin resistance in females with severe obesity after weight loss through bariatric surgery

Monteiro M , Cardoso H , Vargas G , Pichel F , Pereira I , Sergio A , Santos M , Bravo F , Santos C , Ramos H

The association of hyperandrogenism and insulin resistance is common in several syndromes. The proposed mechanism is the stimulation of ovarian theca cells by insulin to produce testosterone. Weight loss, improves insulin resistance, reduces insulin levels and consequently decreases circulating androgens.Material and methods:Ten female subjects with severe obesity and hyperandrogenism were evaluated before and after weight loss at...

ea0026p724 | Diabetes (epidemiology, pathophysiology) | ECE2011

TCF7L2 gene variants and plasma C-peptide concentrations in diabetes type 2

Ferreira M C , Marques M C A , Fukui R T , Correia M R , Silva M E R , Rocha D M , Santos R F

Aims/hypothesis: Several data have shown the association between diabetes type 2 (DM2) and transcription factor 7-like 2 (TCF7L2) gene polymorphisms, in several and different ethnical populations. Although the pathophysiology is not completely clear, it seems that beta and alpha cell functions are abnormal. Up to these days there is no clinical data showing association between TCF7L2 gene polymorphism allele rs7903146 T and beta cell insulin and C-peptide contents in DM2 patie...