Searchable abstracts of presentations at key conferences in endocrinology

ea0032p664 | Male reproduction | ECE2013

Male pseudohermaphroditism Leydig cell hypoplasia

Belo Sandra , Magalhaes Angela , Carvalho Davide

Introduction: LH receptor plays an important role in sexual development and reproductive function. Mutations of this receptor lead to the development of three clinical conditions: Leydig cell hypoplasia, hypergonadotropic hypogonadism with primary amenorrhea and familial male limited precocious puberty. The first two entities result from inactivating mutations. In Leydig cell hypoplasia, with autosomal recessive inheritance, the phenotypic spectrum correlates with the degree o...

ea0032p939 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Pituitary abscess: a possible cause of hypopituitarism

Belo Sandra , Magalhaes Angela , Carvalho Davide

Background: Generously supported by IPSEN)-->Pituitary abscess is a rare but potentially fatal entity. It represents ~0.2–1% of all pituitary lesions. The symptoms are usually nonspecific. The proper interpretation of imaging studies is of extreme importance to the differential diagnoses.Case: Man, 40 years old, begins complaining of occipital headache (25.04.2011), initially with good response to treatmen...

ea0049ep1079 | Pituitary - Clinical | ECE2017

Cushing syndrome and pregnancy: a systematic review including three new cases

China Diogo , Oliveira Ana Isabel , Belo Sandra , Carvalho Davide

Cushing’s Syndrome (CS) is an uncommon disease worldwide, being characterized by an increased production of glucocorticoids, and if left untreated can lead to serious consequences and women with CS rarely get pregnant. The aim of our work is to make a systematic review of the cases of pregnancy in patients with previously diagnosed CS, being performed an extensive research of the Medline and Web of Knowledge databases, and add three new cases observed in our institution. ...

ea0032p139 | Calcium and Vitamin D metabolism | ECE2013

Familiar hypocalciuric hypercalcemia a rare cause of hypercalcemia

Belo Sandra , Magalhaes Angela , Capela Joao , Carvalho Davide

Introduction: Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating autosomal dominant mutations with high penetrance of CaSP gene. Contrary to severe neonatal hyperparathyroidism, caused by homozygous inactivation of the gene, familial hypocalciuric hypercalcemia is usually associated with inactivating variants in heterozygoty.Case: Male patient, 73 years, with history of Behçet’s disease and pulmonary sarcoidosis, was refered f...

ea0032p632 | Growth hormome IGF axis – basic | ECE2013

Glucose metabolism abnormalities in a population of acromegalic patients

Nogueira Claudia , Belo Sandra , Vinha Eduardo , Magalhaes Angela , Carvalho Davide

Introduction: There is a well-established association between acromegaly and insulin resistance (IR). The abnormalities in glucose metabolism may be an important risk factor of cardiovascular morbid-mortality in these patients.Objective: Evaluation of glucose metabolism abnormalities in a population of naïve acromegalic patients and its relationship with delay in diagnosis, gender, levels of insulin like growth factor 1 (IGF1) and GH.<p class="a...

ea0049ep493 | Diabetes (to include epidemiology, pathophysiology) | ECE2017

Bronze diabetes – a rare secondary cause of diabetes

Souteiro Pedro , Neves Joao Sergio , Oliveira Sofia Castro , Belo Sandra , Neves Celestino , Freitas Paula , Carvalho Davide

Introduction: Secondary causes of diabetes refer to a category in which diabetes is associated with other diseases. They are thought to constitute less than 2% of the total cases of diabetes.Case report: A 56 year-old caucasian man, with no relevant medical history, presented to the Emergency Department with fatigue, polyuria, polydipsia, polyphagia and involuntary weight loss (6 kg in two weeks). He was hemodynamically stable and exhibited a glycaemia o...

ea0041ep52 | Adrenal cortex (to include Cushing's) | ECE2016

Adrenal leiomyoma: a rare cause of adrenal incidentaloma

Manuel Costa Maria , Belo Sandra , Souteiro Pedro , Magalhaes Joao , Carvalho Davide

Introduction: Leiomyomas are benign tumors originating from the smooth muscle cells. They occur more frequently in the uterus and in the gastrointestinal system. Adrenal leiomyomas are rare tumors arising from the smooth muscle of the adrenal vein and its tributaries.Case report: Man, 72-years-old, referred to Endocrinology in the context of an adrenal incidentaloma (20 mm maximum diametre) detected in abdominal-pelvic CT performed for the study of splen...

ea0041ep312 | Clinical case reports - Pituitary/Adrenal | ECE2016

Insipid diabetes and acute myeloid leukemia: genotypic/phenotypic correlation?

Manuel Costa Maria , Belo Sandra , Souteiro Pedro , Luis Castedo Jose , Carvalho Davide

Introduction: Central diabetes insipidus (CDI) is a rare complication of acute myeloid leukemia (AML) occurring in less than 0.6% of patients. It is associated with genetic changes in chromosomes 3 and 7. CDI may precede; occur simultaneously or after the diagnosis of AML.Case report: 51-year-old man, with no relevant past medical history, began complaining with polyuria, polydipsia, weakness and weight loss in March 2015.The patient was evaluated in the...

ea0041ep490 | Diabetes complications | ECE2016

Mauriac syndrome – a rare type 1 diabetes mellitus complication and an opportunity for intervention

Souteiro Pedro , Belo Sandra , Costa Maria Manuel , Carneiro Fatima , Carvalho Davide

Introduction: Mauriac Syndrome is characterized by the presence of hepatomegaly, growth retardation, delayed puberty and cushingoid features. This entity is traditionally diagnosed during the work-up of hepatic enzymes alterations in children/young adults with type 1 diabetes mellitus (T1DM) with poor glycaemic control. However, the impact of metabolic control in the normalization of hepatic analytic profile is not clarified.Methods and design: Retrospec...

ea0041ep1035 | Thyroid (non-cancer) | ECE2016

Propylthiouracil induced ANCA-associated vasculitis

Souteiro Pedro , Freitas Joana , Amaral Susana , Belo Sandra , Nogueira Claudia , Pereira Rodrigues , Meirinho Ivone

Introduction: Propylthiouracil is a drug used in the treatment of hyperthyroidism and autoimmunity phenomena have been described as a side effect of its use. Despite anti-neutrophil cytoplasmic antibodies (anca) positivity is frequent in patients treated with propylthiouracil, the occurrence of clinically evident vasculitis is rare.Case report: A 65-year-old woman, diagnosed with hyperthyroidism 2 years ago and treated with propylthiouracil (50+...