Endocrine Abstracts

Introduction: Osteogenesis Imperfecta (O.I.) is a genetic disorder commonly known as brittle bone disease. The majority of people with O.I. have a mutation in one of two genes, COL 1A1 or COL 1A2, that encode type I collagen. In most families, O.I. is inherited in an autosomal dominant pattern. Dual Energy X-ray Absorptiometry - bone mineral density (DXA-BMD) test provides information about bone quantity, not quality. The bisphosphonates - treatment can minimizing fractures by...

Primary ovarian insufficiency (POI) is a highly heterogeneous condition defined by the occurrence of amenorrhoea, hypoestrogenism and hypergonadotropinism in women under 40. POI onset can be triggered by multiple factors, such as iatrogenic events, environmental conditions, autoimmunity or genetic alterations. When the ovarian insufficiency occurs as a consequence of either chromosomal or genetic alterations, it can be associated with other congenital abnormalities and classif...

Introduction: Calcitonin (CT) is the most specific marker for medullary thyroid carcinoma (MTC), thus, even low detectable values can conceal persistent disease. Current guidelines suggest performing an early CT evaluation three months after surgery. However, this timing may be too premature to evaluate the CT nadir, since different isoforms or aggregates from tumour deposits may persist in the bloodstream and require additional time to be cleared. The present study aimed to e...

Introduction: Indeterminate cytology still puzzles clinicians, due to its wide range of oncological risks. The new Italian cytological classification introduced in 2014 by SIAPEC-IAP split this category into TIR3A and TIR3B, according to a different cancer risk of <10% and <30%, respectively. Consequently, TIR3B nodules still have a surgical indication, even if more than half of cases will not result in thyroid cancer. The present study aims to analyse a consecutive se...

Introduction: Acromegaly secondary to an extrapituitary source of GH or GHRH is rare, usually associated with bronchial/thymic carcinoids, neuroendocrine enteropancreatic tumors or extrasellar somatotropinomas. Few series of acromegalic patients with negative pituitary imaging and lack of an ectopic source are reported in the literature.Methods: We report the clinical history and the laboratory and imaging results of an acromegalic woman with no clear ev...

Objectives: Recommending general dynamic penile color doppler ultrasound (D-PCDU) screening in patients with erectile dysfunction (ED) has been questioned due to an inadequate cost-benefit ratio. The aim of the present study is to asses the validity of different risk scores in the identification of patients being screened for arteriogenic ED at D-PCDU.Design and methods: A consecutive series of 738 (mean age 53.6±9.2 years) patients with ED was stud...

Objectives: The aim of present study is to determine psychobiological characteristics of sexual dysfunction (SD) associated with metabolic syndrome (MS; as defined by National Cholesterol Education Program’s Adult Treatment Panel III, NCEP-ATP-III criteria) in a consecutive series of 803 male out-patients.Methods: Several hormonal, biochemical and instrumental (penile doppler ultrasound, PDU) parameters were studied, along with psycho...

Introduction and objectives: Anxiety has a relevant impact on everyday life, including sexual life, and therefore is considered the final common pathway by which social, psychological and biological stressors negatively affect sexual functioning. The aim of this study is to define the psycho-biological correlates of free-floating anxiety in a large sample of patients complaining erectile dysfunction (ED) based sexual problems.Methods: We studied a consec...

Introduction: Since Addison disease is relatively rare and difficult to recognize in childhood delayed diagnosis is common. Patients with adrenal insufficiency generally show hypotension, hypoglycaemia, hyponatriemia, but can also manifest mild symptoms like chronic fatigue, nausea, vomiting, weight loss, recurring abdominal pain and psychiatric symptoms. In this regard mild disturbances in mood, motivation and behavior represent the main clinical features showing a prevalence...

Introduction: Although overall accuracy of fine needle aspiration (FNA) in identifying thyroid cancer is considered excellent, 20–30% of aspirates do not allow definitive diagnosis of malignancy. Proto-oncogene somatic mutations such as BRAFV600E in FNA strongly suggest the presence of malignancy. However, only few studies reported the use of circulating BRAFV600E-mutated alleles in plasma as an useful marker for non invasive diagnosis and follow up of this disease.<p...