Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

hrp0097rfc11.1 | GH and IGFs | ESPE2023

The genetic aetiology of primary multiple pituitary hormone deficiency: a next-generation sequencing analysis of a single-centre cohort.

Plachy Lukas , Dustkova Petra , Maratova Klara , Zemkova Dana , Anne Amaratunga Shenali , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...

hrp0097rfc11.2 | GH and IGFs | ESPE2023

Are pappalysins and stanniocalcins involved in modifying the bioavailability of IGF-I in children with onset of type 1 diabetes mellitus?

Güemes Maria , Canelles Sandra , Martín-Rivada Álvaro , Corredor Beatriz , Barrios Vicente , Argente Jesús

Introduction: Both poor and optimal metabolic control of type 1 diabetes mellitus (T1DM) in children can impact longitudinal growth. A decrease in insulin-like growth factor (IGF)-I and its binding protein 3 (IGFBP3) has been described in these patients. New growth regulatory factors [pappalysins (PAPP-As) and stanniocalcins (STCs)] could modulate the bioavailability of IGFs by regulating the concentrations of intact and free IGFBPs.<str...

hrp0097rfc11.3 | GH and IGFs | ESPE2023

Longitudinal assessment of health-related quality of life (HRQoL) & behavior in adults born small for gestational age (SGA) who were treated with growth hormone during childhood

Dorrepaal Demi , Goedegebuure Wesley , de Ridder Maria , van der Steen Manouk , Hokken-Koelega Anita

Background: Short stature has been associated with a reduction in health-related quality of life (HRQoL) and more problem behavior in children and adults. In adolescents who were treated with growth hormone (GH) because of persistent short stature after being born SGA, an increase in HRQoL and decrease in behavioral problems was seen during or right after cessation of GH-treatment. However, long-term data, to analyze if these positive effects remain many years...

hrp0097rfc11.4 | GH and IGFs | ESPE2023

Functional analysis of a novel mutation of IGF1R gene in two twins with growth failure. An example of genotype-phenotype heterogeneity.

Deodati Annalisa , Fausti Francesca , Pampanini Valentina , Cianfarani Stefano

Background: IGF1 receptor (IGF1R) mutations are associated with pre- and post-natal growth retardation. We describe two monozygotic twins, one of them born small for gestational age (SGA), referred at the age 4 years and 2 months for short stature.Case presentation: The twins were born from non-consanguineous parents at 37-weeks gestational age by caesarean delivery. At birth: patient 1 had weight 2.076 kg (−2.4 SD...

hrp0097rfc11.5 | GH and IGFs | ESPE2023

Influence of sirtuin 1 and fibroblast growth factor 21 levels on IGF-1 concentration in children with short stature of different etiology

Fedorczak Anna , Stawerska Renata , Lewiński Andrzej

Introduction: Short stature is one of the most common reasons for children presenting to an endocrinologist. In normal conditions, growth hormone (GH) stimulates the IGF-1 production in hepatocytes via the STAT5 signaling pathway. Approximately 40% of children diagnosed with idiopathic short stature (ISS), i.e. with normal GH secretion, have a reduced IGF-1 level for unknown reasons. Recently, it has been described that there are certain factors that reduce IG...

hrp0097rfc11.6 | GH and IGFs | ESPE2023

Evaluation Of The Growth Hormone-Insulin like Growth Factor1 Axis And Serum Fibroblast Growth Factor 21 Levels As Related To Stature In Children And Adolescents With Coeliac Disease Adherent To Gluten Free Diet

Kaya Fırat , Urgancı Nafiye , Merve Usta Ayşe , Çelik Sedanur , Uçar Ahmet

Background: Coeliac disease(CD)is a common cause of stunted growth. Despite adherence to gluten-free diet(GFD), short stature may persist in some patients with CD. Studies investigating the growth hormone(GH)-insulin like growth factor-1(IGF1) axis in children and adolescents withCDare scant and inconclusive. Fibroblast growth factor-21(FGF-21)is a181amino acid polypeptide that plays a role in growth, lipid and glucose metabolism. The inhibitory effects of FGF...