Endocrine Abstracts

Introduction: Pheochromocytoma associated with pregnancy carries a great risk for adverse fetal and maternal outcome, especially when the diagnosis is missed. Symptoms can present in a wide variety regarding intensity and duration, making it difficult for the treating midwife or obstetrician to draw correct conclusions.Clinical Case: We present a case of a 29 years old patient whose third pregnancy was complicated by short, but frequent and intense spell...

Objective: Acromegaly (ACRO) is associated with abnormal bone remodeling and reduced volumetric bone mineral density (vBMD) at the lumbar spine and proximal femur. Circulating microRNAs (miRNAs) modulate the activity of osteoblasts and osteoclasts, and are currently being investigated as potential biomarkers of osteoporosis. The aims of our study were: 1) To identify differentially expressed miRNAs in the serum of five patients with active ACRO vs. healthy controls, and 2) To ...

Objective: The purpose of this study was to evaluate the psychometric properties of a novel, patient-reported outcome (PRO) measure, the Hypoparathyroidism (HPT) Symptom Diary (HPT-SD), using data collected during a cross-sectional, noninterventional, observational study. The HPT-SD, developed according to the US Food and Drug Administration PRO guidance, addresses the severity of key symptoms (muscle cramping, tingling and muscle spasms/twitching, fatigue, cognition, emotions...

Introduction: Cushing’s syndrome (CS) has been related to higher psychopathology. Psychopathology can be related to poor memory performance, and low quality of life. The aim of this study is to establish the relationship between the three parameters and with subjective symptom perception in CS.Methods/design: Thirty six patients in remission of CS and 36 matched controls for age, sex and education years were included in the study. They completed SCL...

Introduction: Improved survival following treatment for paediatric medulloblastomas has resulted in increased incidence of late effects, particularly endocrine sequelae. The complete picture of late effects, however, has been limited by short duration of follow up.Aims 1: To establish the evolution of endocrine sequelae in patients treated for medulloblastomaAim 2: To compare the prevalence of endocrine dysfunction among three majo...

Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siem...

Solid tumours are very complex tissues comprising not only cancer cells, but also non-malignant stromal cells such as endothelial cells, fibroblasts, immune cells and extracellular matrix, forming the so called tumour microenvironment. In the last few years, it has become more and more evident the pivotal role of the tumour microenvironment in modulating cancer progression and metastasis. Tumour microenvironment has thus become a potential therapeutic target. To obtain an expe...

Introduction: FKBP5 is a protein that regulates glucocorticoid receptor sensitivity, via an ultra-short negative feedback mechanism. Variations in the FKBP5 gene can influence the response to glucocorticoids (GC). Hypercortisolaemia plays a role on impairment of brain function and could be mediated by epigenetic variations of the FKBP5 gene. Cushing’s syndrome (CS), a disease characterized by hypercortisolaemia, is associated with memory deficits, lower ...

Introduction: Patients with acromegaly are frequently left with long-term adverse sequelae. When compared with individuals with other pituitary adenomas, patients with acromegaly demonstrate greater impairment in their quality of life (QoL).Methods: The disease-specific questionnaire, AcroQoL, and the generic psychological general well-being schedule (PGWBS) were used to evaluate QoL in an acromegaly patient cohort. Longitudinal data were also collected ...

Diabetes insipidus is characterised clinically by the inappropriate production of large volumes of dilute urine, even in the presence of clinical dehydration or depravation of water. DI occurs either due to deficiency or insufficiency of arginine vasopressin (AVP) hormone production. The gold standard test remains the water deprivation test. Hereditary DI accounts for <10% of all cases.We present a family with a known heterozygous missense mutation, ...