Endocrine Abstracts

The ‘Multiple Endocrine Neoplasia’ predominantly affect the pituitary gland, parathyroids, thyroids, adrenal glands and pancreas. We present the case of a patient with three different functioning endocrine gland tumours, but who cannot be included in any of these groups.Case report: Sixty-five-years-old female with recurrent episodes of nephritic colic and hypertension for 2 years; non-specific gastrointestinal complaints, hirsutism, hyp...

Resistance to thyroid hormones (RHT) is a rare syndrome, with autosomic dominant transmission, due to mutations in thyroid hormones beta-receptor gene. Clinical presentation is variable for the same mutation. This hypothesis must be considered in presence of high levels of thyroid hormones and TSH not suppressed.The evaluation of a 15-year-old female patient, in 1990, harbouring a thyroid nodule, secondary amenorrhea and visual and auditory impairment sh...

Objective: The pathogenesis of pituitary tumours is still incompletely understood. Somatotropinomas occur both sporadically and in the context of familial syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and isolated familial somatotropinoma (IFS). Recently, germline mutations were reported in AIP (aryl hydrocarbon receptor interacting protein) gene in Finish and Italian families and in Finish patients with apparently sporadic pituitar...

Treatment for osteoporosis in children/adolescents is extremely important not only to improve bone quality but also because, if left untreated, could lead to severe and precocious loss of bone mass. Studies in growth hormone (GH) deficient adults, in turn, have shown that treatment with GH produce bone mass gain and improve the occurrence of both bone formation and reabsorption.The authors present the following case report of a 16 year old Caucasian fema...

Cushing’s syndrome is a rare disorder in children and adolescents. The diagnosis can be a challenge for the clinician, as its principal feature – obesity – is extremely common. We present three cases diagnosed in the last 20 years. The first one was a boy aged 17 that presented in 1984 with central obesity, acne, moon face with plethora, abdominal striae, easy bruising and skin atrophy. The investigations performed consisted in cortisol and ACTH plasma measureme...

The melanocortin-2-receptor accessory protein (MRAP) is a type I integral transmembrane protein required for the functional expression of the melanocortin-2-receptor (MC2R).Here we have investigated the expression and biochemical properties of mouse MRAP. Initially, mouse MRAP and MC2R tissue expression were determined by RT-PCR, being only present in the adrenal gland and fat tissue. Then, by in situ hybridisation studies using a full-length MRAP...

Background: Cardiovascular disease (CVD) is the leading cause of death in persons with type 1 diabetes (T1DM). However, there are no CVD-risk prediction models for this population in widespread use and those developed from general population and type 2 diabetes have been shown to underestimate CVD-risk in T1DM. Recently, the Steno Type 1 Risk Engine (ST1RE) was developed for predicting CVD in a cohort of T1DM persons without clinical CVD. We investigate the relationship betwee...

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: Hypertriglyceridemia, a cardinal feature of metabolic syndrome (MS), is associated with cardiovascular disease and abnormal metabolism of apolipoproteins which may form the basis for this relationship. The aim of this study is to evaluate triglyceride-rich lipoproteins profile in MS patients.Material and methods: A retrospective study was performed, including patients evaluated in a tertiary hospital. Patients with thyroid dysfunction, neop...

Introduction: There are significant physiologically and clinically differences in profiles between metabolic healthy and metabolic unhealthy obese individuals. Several markers are on study in order to better characterize the metabolic profile of metabolic unhealthy obese individuals. The aim of this work was to determine whether the triglycerides/glucose (TyG) index may be a valuable marker for identifying metabolically unhealthy obesity.Methodology: Met...