Endocrine Abstracts

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 ...

Introduction: Obesity was thought to be protective against osteoporosis, but studies have shown conflicting results. We analysed the cross-sectional data from the National Health and Nutrition Examination Survey Data (NHANES) survey (2008–2012) to observe the association between BMI (BMI and/or waist circumference) and bone mineral density (BMD) at the femoral neck.Research methods and design: We categorised the study population (women aged 50 years...

Introduction: An aim of the ERNs is empowering patients, by education & learning about their experiences after diagnosis of a rare endocrine disease (RED), to identify gaps and improve outcome. Thus, EndoERN Work Package 4 designed a survey, to learn about patients perceptions on quality of care and existing gaps in diagnosis/management.Aim: Evaluate results of a 21 question survey answered on-line on a Likert scale by individual patients with RED or...

Background: Current guidelines recommend that susceptible patients should be tested and treated for AGHD. Still, it is not universally recognised as a distinct entity and reimbursement of GH replacement therapy is not available in some countries.Aim: 1) to record current practice of AGHD management throughout Europe and benchmark it against existing guidelines, 2) to evaluate educational status of health care professionals.Patients...

Introduction: Cushing’s syndrome (CS) has been associated with low quality of life, even after biochemical cure. However little data is available on long term follow-up. The aim of the study was to analyse 10-year follow-up of quality of life (QoL) in patients in remission of CS.Methods: 24 patients in remission of CS followed in Hospital Sant Pau were included in this study (3 men, 21 pituitary origin, 3 adrenal; mean baseline age 45.1 ± 14.1...

Background: Holoprosencephaly (HPE) is a brain malformation that results from a defect in the patterning of the forebrain. Children with the most severe forms of HPE have endocrine deficits, in addition to neurologic and visual impairment. Forebrain abnormalities and pituitary hormone deficiencies are also part of the clinical spectrum of septo-optic dysplasia (SOD).Aim: Describe the spectrum of endocrinopathies in children with HPE and compare their cha...

Introduction: A previous case-report described one individual whose significant sleep disturbance in association with septo-optic dysplasia (SOD) was corrected with melatonin administration. Subsequently a trial of melatonin treatment in children with SOD and sleep disruption has become accepted clinical practice in many centres. There are however no published data describing melatonin secretion in these individuals.Methods: We studied six children with ...

Introduction: There is a large body of evidence to suggest that the GH axis plays an important role in brain myelination. However, results from studies in humans with an abnormal GH axis have varied and therefore there remains no consensus as to whether the GH/IGF1 axis plays a significant role in neural development. No previous studies have used diffusion tensor imaging (DTI) a sensitive magnetic resonance imaging (MRI) technique for studying brain white matter tracts, to add...

The ERCUSYN (European Registry on Cushing’s syndrome (CS)) study is a project funded by the European Commission Public Health Program (PHP 800200), of which the ESE is one of the 41 Partners from 25 countries. The aims include obtaining prospective and follow-up data at EU level on epidemiology, mortality, outcome of therapies, co-morbidities, assessment of diagnostic and therapeutic strategies, quality of life evaluation using a disease-generated questionnaire (CushingQo...