Endocrine Abstracts

Introduction: Individuals with Prader-Willi syndrome (PWS) have hypothalamic dysfunction, with deficiencies of several hypothalamic-pituitary axes. Prevalence of central hypogonadism, hypothyroidism and growth hormone deficiency are increased in comparison with non-PWS individuals. Central adrenal insufficiency (CAI) has also been reported in PWS. Several studies, using different testing modalities, have reported strikingly differing prevalences of CAI in PWS, ranging from 0% ...

Introduction: Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. In PWS, up to 3% of patients die every year. In half of the patients, the cause of death is obesity related and / or of cardiovascular origin. Obesity is caused by hyperphagia combined with a low energy expenditure. Untreated hormone deficiencies like hypogonadism and hypothyroidism can cause low muscle...

Introduction: A yearly mortality rate of 4% among young adult patients is unacceptable in any patient population. Nevertheless, in Prader-Willi syndrome (PWS), up to 4% of young patients die every year and this situation has been going on for decades. PWS is a complex hypothalamic disorder, combining hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Due to this lack of satiety, patients can literally eat themselves to death: overeating ca...

Background: A common request at an endocrine outpatient clinic is to rule out acromegaly in a patient with acromegaloid features. It is important to do so, since the excessive excretion of growth hormone can result in various serious comorbidities. But when growth hormone-IGF-1 axis abnormalities are excluded, the physician faces a diagnostic dilemma. Here we provide a systematic approach to these patients.Methods: We present a case series of patients vi...

BackgroundFeatures of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat and low muscle mass and strength. In children with PWS, GH treatment improves physical health, cognition and quality of life (QoL). GH treatment is standard of care in PWS children, but in adults this is not the case. A systematic review and meta-analysis was conducted to provide a concise...

IntroductionPrader-Willi syndrome (PWS) is a complex genetic syndrome in which hypothalamic dysfunction leads to hyperphagia and pituitary hormone deficiencies (PHD), among others. The majority of patients have intellectual disability (ID) and use of psychotropic drugs is frequent. Due to hypotonia and the low muscle mass associated with the syndrome, adults with PWS have a low basal metabolic rate (BMR). Combined with hyperphagia, this results in high r...

Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...

Background: Turner syndrome (TS) is a rare genetic developmental disorder characterized by gonadal dysfunction, short stature and heart defects, among others. Women with TS often suffer from severe fatigue, for which they are typically referred to endocrinologists. The diagnostic work-up is generally time-consuming and invasive, but it rarely solves the problem. To prevent the personal and financial burden of unnecessary diagnostic procedures, it is crucial to understand fatig...