Endocrine Abstracts

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....

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: Diabetes mellitus (DM) is one of the main causes of end-stage renal disease (ESRD). Renal transplantation is the most effective form or renal replacement.Methods: Retrospective, descriptive study of a sample of 108 diabetic patients admitted as candidates to renal transplant from January 1991 to December 2011, using the SPSS programme, version 20.0.Results: 11 women and 97 men were evaluated (medium age: 58±8.2 y...

Introduction: The benefits of intensive management of type 1 and type 2 diabetes have been well established in several studies, as DCCT and UKPDS, and include reduced of long term complications. Current guidelines target of A1c<7% is also to achieve in diabetic patient with kidney transplant. Methods to improve patient’s ability to achieve this goal are being explored. Continuous monitoring of glucose in interstitial fluid allows the identification of glycemic excursi...

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: 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: Cushing Syndrome have long been recognised to predispose patients to infection diseases, a consequence of the immunosuppression induced by corticosteroids. There is a predisposition to viral, bacterial, parasitic and especially fungal diseases. Opportunistic infections, particularly invasive fungal infections, represent a serious complication associated with an increased risk of mortality.Clinical case: We represent a 55 years-old woman, po...

Introduction: Thyroglobulin (Tg) measurement in needle washouts from fine-needle aspiration biopsies (FNA-Tg) increases the sensitivity of lymph node (LN) metastasis diagnosis in differentiated thyroid cancer (DTC). However, the cutoff value for FNA-Tg has not been clearly established and there are large differences between clinical studies, which hinders its interpretation. Our study aimed to investigate the optimal cutoff value of FNA-Tg and evaluate its utility in the diagn...

Introduction: McCune-Albright syndrome (MAS) consists of at least two of the following three conditions: polyostotic fibrous dysplasia (PFD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. The most common form of autonomous endocrine hyperfunction is precocious puberty, but other syndromes may be present, including acromegaly, hyperthyroidism, and Cushing syndrome. Acromegaly is seen in approximately 20% of patients with MAS. Treatment opt...

Introduction: The American Diabetes Association proposed two subcategories for type 1 diabetes: autoimmune type 1 diabetes (ADM) and idiopathic type 1 diabetes (IDM). The absence of β-cell autoimmune markers and lack of association with HLA haplotypes define the second category, whose pathogenesis remains unclear. Only a minority of patients with type 1 diabetes fall into this subcategory which is considered by several authors similar to type 2 diabetes.<p class="abst...