hrp0095fc9.5 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Gonadal Function, Pubertal Development, and Fertility Outcomes in Male and Female Survivors of Medulloblastoma - a Single Tertiary Centre Experience.

Stern Eve , Ben-Ami Michal , Gruber Noah , Yalon Michal , Abebe-Campino Gadi , Caspi Shani , Lurye Michal , Toren Amos , Modan-Moses Dalit

Background: Endocrine deficiencies, including impairment of the hypothalamic-pituitary-gonadal axis (HPGA), are found in the majority of survivors of medulloblastoma, due to high-dose craniospinal irradiation and gonadotoxic chemotherapy. Data regarding HPGA function in survivors of medulloblastoma is limited to small groups of patients and focusses mainly on female survivors. Furthermore, few studies investigated specific risk factors such as treatment protoc...

hrp0095fc9.6 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Cerebral infarction in childhood-onset craniopharyngioma patients: results of KRANIOPHARYNGEOM 2007

Boekhoff Svenja , Bison Brigitte , Genzel Daniela , Eveslage Maria , Friedrich Carsten , Flitsch Jörg , Müller Hermann L.

Background: Cerebral infarction (CI) is a known vascular complication following treatment of suprasellar tumors. The purpose of our study was to determine the incidence of cerebral infarction (CI) in a cohort of 244 German childhood-onset craniopharyngioma (CP) patients recruited between 2007 and 2019 with a high degree of completeness in the prospective, randomized trial KRANIOPHARYNGEOM 2007 (Clinical Trial No. NCT01272622). Up to now, risk factors for CI, i...

hrp0095fc10.1 | GH and IGFs | ESPE2022

Growth hormone and childhood-onset craniopharyngioma: When to initiate growth hormone replacement therapy?

Quoc Adrien Nguyen , Kévin Beccaria , BriceñO Laura GonzáLez , Graziella Pinto , Boustani Dinane Samara , Athanasia Stoupa , Jacques Beltrand , Alix Besançon , Caroline Thalassinos , Stéphanie Puget , Thomas Blauwblomme , Claire Alapetite , Stéphanie Bolle , François Doz , Jacques Grill , Christelle Dufour , Franck Bourdeaut , Samuel Abbou , Rousseau Léa Guerrini , Amaury Leruste , Séverine Brabant , Magali Viaud , Nathalie Boddaert , Michel Polak , Dulanjalee Kariyawasam

Objective: Craniopharyngioma is a benign brain tumour with frequent local recurrence after treatment. Growth hormone replacement therapy (GHRT) is prescribed in children with growth hormone deficiency due to childhood-onset craniopharyngioma. The objective was to evaluate whether shorter time delay of GHRT initiation after childhood-onset craniopharyngioma completion therapy increased the risk of recurrence.Design: Our r...

hrp0095fc10.2 | GH and IGFs | ESPE2022

The first-year growth response to once-weekly growth hormone (GH) treatment can be predicted from the pre-treatment blood transcriptome in children with GH deficiency (GHD)

Garner Terence , Clayton Peter , Murray Philip , Bagci Ekaterine , Højby Michael , Stevens Adam

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

hrp0095fc10.3 | GH and IGFs | ESPE2022

Near final height in 62 twin pairs with twin-to-twin transfusion syndrome is not associated with the GHRd3 genotype

Schreiner Felix , Schulte Sandra , Kasner Charlotte , Bartmann Peter , Woelfle Joachim , Bettina Gohlke

Background: Alterations of pre- and early postnatal growth can have long lasting impact on adult height, body composition and metabolic health throughout life. In monozygotic twins discordant for prenatal growth due to twin-to-twin transfusion syndrome (TTTS), we previously demonstrated lower cord blood IGF-I concentrations and earlier pubertal maturation, indicative of prenatal programming of endocrine systems, to be linked to reduced final height of the form...

hrp0095fc10.4 | GH and IGFs | ESPE2022

Cerebral white matter hyperintensities in young adults born small for gestational age treated with growth hormone during childhood in comparison with untreated controls

Dorrepaal Demi , Goedegebuure Wesley , Bos Daniel , van der Lugt Aad , van der Steen Manouk , Hokken-Koelega Anita

Background: The French population of the SAGhE study showed an increased morbidity and mortality due to cerebrovascular disease in growth hormone (GH) treated subjects compared to the general population. Cerebrovascular health can be assessed using neuroimaging markers on MRI. One of the markers is white matter hyperintensity (WMH).Objective: To assess cerebrovascular health by scoring WMH on MRI in young adults born sma...

hrp0095fc10.5 | GH and IGFs | ESPE2022

Features and outcomes of syndromic vs non-syndromic children born small for gestational age (SGA) under growth hormone therapy in a Belgian cohort

Becker Marianne , Thomas Muriel , Brachet Cécile , Heinrichs Claudine , Dotremont Hilde , Logghe Karl , Casteels Kristina , Rochtus Anne , Klink Daniel , Cools Martine , De Waele Kathleen , Parent Anne-Simone , Massa Guy , Staels Willem , Gies Inge , Lysy Philippe , Beckers Dominique

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

hrp0095fc10.6 | GH and IGFs | ESPE2022

Defects in QSOX2, a novel regulator of STAT5B nuclear import and transcriptional activity, lead to severe post-natal growth restriction

Maharaj Avinaash , Andrews Afiya , Chatterjee Sumana , Hwa Vivian , Storr Helen

Background: Growth Hormone Insensitivity (GHI) is characterised by short stature and functional IGF-I deficiency associated with normal/elevated GH levels. Marked genetic and phenotypic heterogeneity exist, and heritable defects in GH-IGF-I axis genes/associated pathways account for mild-moderate to severe GHI cases. We report twin brothers from a non-consanguineous kindred who present with short stature and bi-allelic mutations in QSOX2 encoding the nuclear m...

hrp0095fc11.1 | Late Breaking | ESPE2022

Deep subcutaneous adipose tissue is associated with hyperinsulinemia in adolescents

Cerenius Sara Y. , Stenlid Rasmus , Aydin Banu , Weghuber Daniel , Bergsten Peter , Forslund Anders

Introduction: Abdominal subcutaneous adipose tissue (SAT) is subdivided into two depots by the fascia of Scarpa. The deep SAT (dSAT) and superficial SAT (sSAT) are morphologically and metabolically distinct, with dSAT reportedly being more similar to visceral adipose tissue (VAT) in terms of elevating the risk for obesity-related complications. Conversely, sSAT appears to be more similar to lower-body SAT. The relationship between dSAT and metabolic disease ha...

hrp0095fc11.2 | Late Breaking | ESPE2022

The influence of Non-Alcoholic Fatty Liver Disease and of its genetics on thyroid function in children with obesity

Di Sessa Anna , Cembalo Sambiase Sanseverino Nicoletta , Maddalena Marrapodi Maria , Rosaria Umano Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Miraglia del Giudice Emanuele

Background: The patatin-like phospholipase domain-containing protein 3 (PNPLA3) I148M and the transmembrane 6 superfamily member 2 (TM6SF2) E167K polymorphisms have been recognized as the major risk polymorphisms for Non-Alcoholic Fatty Liver Disease (NAFLD). Data supported a close relationship of NAFLD with thyroid function both in adults and children. To investigate the influence of NAFLD and of its genetics on thyroid function.<p class...