Endocrine Abstracts

Introduction: Due to improved pediatric care, life expectancy of children with complex genetic syndromes (CGS) is increasing. Many children with CGS now do reach adult age and have to make the transition to adult endocrine healthcare. However, many adult endocrinologists are not yet prepared for the increasing number of adults with CGS. Although patients receive multidisciplinary (MD) care at the pediatric department, MD care is not yet available for most adults with CGS. Also...

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: POU1F1 is a pituitary transcription factor, critical for differentiation of pituitary somatotrophs, thyrotrophs and lactotrophs. POU1F1 expression depends on the presence of PROP1, which attenuates expression of transcriptional repressor HESX1. Previous mutation screening of POU1F1 coding exons in our cohort of patients with combined pituitary hormone deficiency (CPHD) showed POU1F1 mutations in only 1% of the families. We hypo...

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...

Introduction: Growth hormone (GH) is not only important for growth during childhood. Also, for (young) adults, growth hormone is important for bone mass, muscle strength and metabolism. GH deficiency (GHD) is a condition that can cause a broad range of adult health issues, if left untreated. Therefore on one hand, it is important to confirm and treat GHD after transfer to adult care. On the other hand, the personal and financial burden of unnecessary growth hormone in...

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...

Introduction: Prader-Willi Syndrome (PWS) is a complex syndrome including hyperphagia, pituitary hormone deficiencies, low muscle mass and cognitive impairment. Treatment with recombinant Growth Hormone (GH) has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function, and quality of life of patients with PWS. GH treatment has a narrow therapeutic range. Clinicians measure serum immunoreactive Insulin-like Growth Fa...