Endocrine Abstracts

Introduction: Amyloidosis due to Apo A-I Leu75Pro mutation is a rare form of hereditary amyloidosis with systemic involvement mainly of testicle, kidney and liver. This disease finds a wide prevalence in the province of Brescia (Northern Italy), which represents a geographic uniqueness for the spread of this amyloidosis form. Somefeatures of this disease have not yet been described.Purpose: To describe the frequency of organ damages in this amyloidosis f...

Neoangiogenesis is essential for tumor development. Hypoxia inducible factor (HIF), a transcriptional factor composed of two subunits (α and β) plays a key role in this process, activating proangiogenic factors, such as VEGF. The HIF α subunits are critically regulated by oxygen but also modulated by growth factors. Kaposi Sarcoma (KS) is a highly vascular tumor which releases large amounts of VEGF and for which we have recently described an essential role for I...

We have previously reported comparisons of ACROQOL, a disease-specific questionnaire for QOL in patients with acromegaly, with the non-disease-specific generic tools Psychological General Well-Being Schedule (PGWBS) and EUROQOL and disease-specific signs and symptoms score (SSS). ACROQOL comprises 22 questions (subdivided into physical and psychological classes, total score out of 110 quoted as percentage, higher scores = better QOL). SSS rates 5 features of acromegaly each ra...

Pituitary hormones are released into the bloodstream in a pulsatile fashion in response to stimuli from their hypothalamic regulators. For efficient generation of hormone pulses, both the hypothalamic mechanisms and the pituitary target cells must exhibit a high degree of coordinated secretory activity. This is particularly important for the growth hormone (GH) axis since the target tissue responses are critically dependent on the temporal pattern of GH exposure, as well as th...

Metabolic diseases are among the most important diseases in western societies and usually related to obesity. Dietary interventions are recommended for treatment and include both strategies with reduced caloric intake and alterations in macronutrient composition. Metabolism must be assumed to be regulated differently in females and males. In previous studies we demonstrated that low carbohydrate high fat (LCHF) diets affect GH/IGF-I axis in male rats. We know investigated whet...

Pseudohypoparathyroidism (PHP) type I includes two major subtypes, Ia and Ib. About 70% of Ia patients, characterized by Albright hereditary osteodystrophy and multihormone resistance (PTH/TSH/GHRH/gonadotropins), carry point mutations in GNAS exons encoding Gsα. About 60% of Ib patients, with hormone resistance limited to PTH and TSH, have methylation defects within GNAS locus (sporadic or genetic-based). Recently, methylation defects were detected in pts with Ia phenoty...

In this report, we described pulmonary hypertension (PH) in two patients with growth hormone insensitivity (GHI) who are taking IGF-I(increlex) for along time.Case 1: 6-year-old male patient who has been followed for 4 years with the diagnosis of GHI. He was admitted to the hospital with the complaints of hypoglycemia and severe short stature (height SDS: −7.4). His physical examination, laboratory findings(GH>40 μg/dl, IGF-IA homozygous m...

Introduction: In adult patients with pituitary disease no relationship has been established between the biochemical severity of GHD and the degree of QoL impairment. Reasons may include heterogeneity of underlying pathologies, and the type of therapies received by GHD patients.Methods: The KIMS (Pfizer International Metabolic Database) database was used to focus solely on patients with non-functioning pituitary adenomas and prolactinomas treated by surge...

Introduction: Fine needle aspiration cytology(FNAC) is the mainstay for evaluation of nodular thyroid disease. Internationally reported prevalence for Bethesda I(unsatisfactory sample) category is 5-60%. Several factors may determine this result, including patient and nodules’ features as well as both FNAC performer and pathologists’ skills. Few studies have evaluated pre-procedure factors associated with unsatisfactory cytology results. If present, recognizing these...

Primary Aldosteronism (PA) is the commonest secondary cause of hypertension. Multiple studies worldwide suggest a prevalence of approximately 10% in an unselected hypertensive cohort and up to 20% in resistant hypertension. This does not correlate with real world experience and PA remains a significantly under-recognised condition. There is a myth that the biochemical diagnosis of PA is complex and requires significant alterations to drug therapy and v...