Endocrine Abstracts

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...

Background: Apart from signs of hyperprolactinaemia, patients with macroadenomas with extrasellar extension generally seek medical attention due to mass effect. Macroprolactinomas, particularly in men, may occasionally exhibit a very aggressive clinical course.Case report: Male 37 years old that went to a Neurology consultation complaining of progressively more frequent self-limiting episodes of restraint, silence and time and space disorientation in the...

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...

Introduction: Kallmann Syndrome (KS) consists of hypogonadotropic hypogonadism and anosmia, and is 5 fold more prevalent in males. There is a considerable clinical and genetic heterogeneity and a crescent interest in autosomal genes. The FGFR1 gene, located on the short arm of chromossome 8, encodes a glycoprotein fibroblast growth factor receptor and FGFR1 mutations has been identified in 10% of KS patients. The clinical picture include typical KS and associated features....

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

Introduction: Adrenal insufficiency is a life-threatening disease caused by primary adrenal failure or secondary adrenal failure due to an impairment of hypothalamic-pituitary axis that affects adrenal cortisol synthesis. It is characterized by deficient production of glucocorticoids and may be associated with mineralocorticoid and androgens deficiency. Prompt diagnosis and management are essential and may even be life-saving.Methods: We retrospectively ...

Introduction: The aging population brought new challenges in several diseases. Pituitary tumors are usually not related with elderly, although the rise in life expectancy has allowed its diagnosis in unusual age groups.Aim: To describe the pituitary tumors diagnosed in patients with age ≥ 80 yearsMethods: Retrospective observational study which included 23 patients with pituitary tumors with age ≥ 80 years observed in c...

Introduction: Gestational Diabetes Mellitus (GDM) is one of the pregnancy diseases with the highest rate of complications, influenced by several factors. Its prevalence has increased, with a prevalence of 7.2% in Portugal.Objective: Characterize pregnant women with GDM and evaluate the perinatal outcomes according to the country of origin and previous GDM.Material and methods: Cross-sectional and retrospective study. We collected c...

Introduction: Turner syndrome (TS) is one of the most common chromosomal abnormalities, characterized by systemic involvement and susceptibility to some disorders that begin or progress in adult life. These lead to an increase in morbidity and mortality and a decrease in quality of life. The aim of this study was to analyse the profile of women with TS, who are currently followed in endocrinology, regarding: karyotype, age, final height and weight, puberty and fertility, and m...

Introduction: Spontaneous fertility in Turner syndrome (TS) is rare, due to low or absent ovarian reserve. A greater number of ovarian follicules is present in the cases of gonadal mosaicism, although the accelerated pace of apoptosis remains. Thus, the early referral to reproductive counseling is advisable, ideally soon after diagnosis. The criopreservation of oocytes is one of the options for fertility preservation. The authors present a series of 7 patients with TS admitted...