hrp0089fc13.6 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

Teamwork Saves Lives: How Pediatric Multidisciplinary care can Prevent ‘Unexplained Deaths’ in Adults with Prader-Willi Syndrome

Davidse Kirsten , Pellikaan Karlijn , Rosenberg Anna , Baan Janneke , de Graaff Laura

Introduction: Prader-Willi Syndrome (PWS) is a complex hypothalamic disorder, causing hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. Up to 4% of young patients with PWS die unexpectedly, every year. The mean age of reported deaths in PWS is 29.5 years; 20% of deaths even occur below age 18 years. Mortality data show that more than 50% of deaths are of cardio-pulmonary origin. Morbid obesity, diabetes and hypertension are strong risk fa...

hrp0084p1-161 | Miscelleaneous | ESPE2015

Screening of IGSF1 in Patients with Central Hypothyroidism and GH Deficiency, Participating in the Dutch HYPOPIT Study

Elizabeth Melitza , Peeters Robin , Visser Theo , Hokken-Koelega Anita , de Graaff Laura

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

hrp0092fc8.3 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Absence of Central Adrenal Insufficiency in Adults with Prader-Willi Syndrome

Rosenberg Anna , Davidse Kirsten , Pellikaan Karlijn , Donze Stephany , Hokken-Koelega Anita , van der Lely Aart Jan , de Graaff Laura

Introduction: Individuals with Prader-Willi syndrome (PWS) suffer from hyperphagia, hypotonia and hypothalamic dysfunction, leading to a variety of pituitary hormone deficiencies. Central adrenal insufficiency (CAI) has been reported in PWS, while each of these studies used different testing modalities and cut-off values. Therefore, reported prevalence of CAI ranges from 0% to 60%. It has been speculated that CAI might be responsible, at least in part,...

hrp0092fc12.3 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Hormone Treatment in Adults with Prader-Willi Syndrome has Sustained Positive Effects on Body Composition

Damen Layla , Donze Stephany , Kuppens Renske , Bakker Nienke , de Graaff Laura , Alfen-van der Velden Janiëlle van , Stikkelbroeck Nike , Hokken-Koelega Anita

Context: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone (GH) treatment are well established. Currently, when young adults with PWS have attained adult height (AH), they have to stop GH treatment. Several one year studies have shown that GH treatment is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects.Objective: To investi...

hrp0092p1-367 | GH and IGFs (2) | ESPE2019

Normal IGF-Bioactivity and Low Free IGF-I in Patients with Prader-Willi Syndrome with High Total Serum IGF-I: Immunoreactive IGF-I Concentration Poorly Reflects IGF Bio-Activity and Bio-Availability.

Elizabeth Melitza , Donze Stephany , Pellikaan Karlijn , van den Berg Sjoerd , van Doorn Jaap , Peeters Robin P. , Hokken-Koelega Anita C.S. , de Graaff Laura C.G.

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...