hrp0095p1-279 | Fat, Metabolism and Obesity | ESPE2022

Sex-specific POMC DNA methylation variability is associated with increased body weight

Lechner Lara , Wiegand Susanna , Leitão Elsa , Schröder Christopher , Jöckel Karl-Heinz , Nöthen Markus , Schmidt Börge , Horsthemke Bernhardt , Kühnen Peter

The increasing prevalence of obesity and associated comorbidities worldwide is a major problem for national health care systems. For this reason, it is of importance to gain knew knowledge about the central regulation of body weight and to identify factors which are leading to an increased individual risk to gain weight. Despite large genome weight associations studies and related genetic risk scores, the regulation of inter-individual body weight variability remains elusive. ...

hrp0095p2-158 | Growth and Syndromes | ESPE2022

Global recall of a growth hormone jet delivered device: experiences with children forced to switch from a needle free system to a growth hormone device with needle.

P. van Eck Judith , S. Renes Judith , J.C. Sas Theo , L.T. van den Akker Erica , C.M. van der Kaay Daniëlle

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

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...

hrp0092fc13.2 | Adrenals and HP Axis | ESPE2019

Sexual Dimorphism in Cortisol Production and Metabolism Throughout Pubertal Development: A Longitudinal Study

van Keulen Britt , Dolan Conor , van der Voorn Bibian , Andrew Ruth , Walker Brian , Boomsma Dorret , Hulshoff-Pol Hilleke , Rotteveel Joost , Finken Martijn

Background: Sex differences in disease susceptibility might be explained by a sexual dimorphism in hypothalamic-pituitary-adrenal axis activity, which has been postulated to emerge during puberty. The aim of this study is to assess the contribution of pubertal development to sexual dimorphism in cortisol production and metabolism.Methods: Participants, born between 1995 and 1996, were enrolled from the population-based N...

hrp0092fc13.4 | Adrenals and HP Axis | ESPE2019

Biphasic Glucocorticoid Rhythm in One Month Old Infants: Reflection of a Developing HPA-Axis?

Hollanders Jonneke J. , de Goede Paul , van der Voorn Bibian , Honig Adriaan , Rotteveel Joost , Dolman Koert , Kalsbeek Andries , Finken Martijn J.J.

Background: The hypothalamus-pituitary-adrenal (HPA) axis displays a diurnal rhythm, peaking in the morning and with a nadir at night. However, not much is known about the development of the HPA- axis, although strikingly some evidence suggests that a rhythm with a peak in the afternoon is already present antenatally. We aimed to describe HPA-axis activity at age 1 month as well as study possible influencing factors.Methods</stro...

hrp0092rfc9.2 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Age-Specific Reference Values for Plasma FT4 and TSH Concentrations in Healthy, Term Neonates at Day Three to Seven, and 13 to 15 of Life

Naafs J.C. , Heinen C.A. , Zwaveling-Soonawala N. , van der Schoor S.R.D. , Tellingen V. van , Heijboer A.C. , Fliers E. , Boelen A. , van Trotsenburg A.S.P.

Background: Congenital hypothyroidism (CH) is a common and preventable cause of mental retardation in children, and is detected using dried blood spots in many neonatal screening programs. Upon suspicion of CH, plasma free thyroxine (FT4) and thyroid stimulating hormone (TSH) concentrations are measured. CH can be of thyroidal or central origin (CH-T and CH-C, respectively). While CH-T diagnosis is based on an elevated plasma TSH in combination with a low FT4,...

hrp0092rfc14.5 | Adrenals and HP Axis | ESPE2019

Bioactive IGF-I Concentration Compared to Total IGF-I Concentration Before and After 1 Year of High-Dose Growth Hormone in Short Children Born Small for Gestational Age - North European SGA Study (NESGAS)

Beck Jensen Rikke , Gersel Wegmann Mathilde , Thankamony Ajay , Roche Edna , Hoey Hilary , Kirk Jeremy , Ivarsson Sten-A. , Söder Olle , Frystyk Jan , Dunger David B. , Juul Anders

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

hrp0092p1-42 | Fat, Metabolism and Obesity | ESPE2019

De-novo and Depot-Specific Androgen Production in Human Adipose Tissue - a Source of Hyperandrogenism in Obese Females

Wagner Isabel Viola , Sahlin Lena , Kulle Alexandra , Klöting Nora , Döbeln Viola , Savchuk Iuliia , Dötsch Jörg , Söder Olle

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism but the role of adipose tissue (AT) in androgen synthesis remains unclear.Aims/Objectives: Employing human subcutaneous and visceral AT and cultured adipocytes, we studied whether AT could be a source of androgens promoting hyperandrogenism in lean and especially in obese females.Methods</st...

hrp0092p1-377 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

International Consensus: Ovarian Tissue Cryopreservation in Young Turner Syndrome Patients. Outcomes of an Ethical Delphi Study Including 55 Experts from 16 Different Countries.

Schleedoorn Myra , Mulder Bjarne , Braat Didi , Beerendonk Catharina , Peek Ron , Nelen Willianne , van Leeuwen Evert , van der Velden Janielle , Fleischer Kathrin

Summary Answer: The majority of the expert panel states that ovarian tissue cryopreservation (OTC)should be offered to young females with Turner syndrome (TS)Background: OTC is a valid option to preserve the fertility of young females at risk of iatrogenic premature ovarian insufficiency (POI). Offering OTC to females with a genetic cause of POI seems a logical next step. One of the most common genetic disorders related ...

hrp0089fc5.4 | Thyroid | ESPE2018

Thyroid Hormone Analog Therapy in Patients with MCT8 deficiency: the Triac Trial

Groeneweg Stefan , de Coo Rene , van Beynum Ingrid , van der Knoop Marieke , Aarsen Femke , de Rijke Yolanda , Peeters Robin , Visser Theo , Visser Edward

Introduction: Mutations in the thyroid hormone (TH) transporter MCT8 result in MCT8 deficiency, which is characterized by severe intellectual and motor disability and high serum T3 concentrations inducing thyrotoxicity in peripheral tissues. At present, no effective treatment is available, although preclinical studies suggest that the T3 analog Triac is a promising candidate to i) normalize serum T3 levels and thus alleviate the thyrotoxicosis and ii) restore TH signaling in t...