hrp0095rfc8.5 | Diabetes and Insulin | ESPE2022

Impact of type 1 diabetes on the epicardial fat thickness in children and adolescents

Raafat Shaymaa , Elashry Reham , Adel Hani , Wafa Ehsan

Introduction: Diabetes mellitus has been shown to be a major risk factor for development of early adult onset cardiovascular disease (CVD). Therefore, early detection and management of CVD became a major concern for health care providers. Epicardial fat thickness (EFT) is considered a new marker of visceral adiposity. The increased epicardial adiposity does not only increase the cardiovascular risk but also is considered an established risk factor for appearan...

hrp0095rfc8.6 | Diabetes and Insulin | ESPE2022

Short-term effects of elexacaftor/tezacaftor/ivacaftor modulator therapy on glucose tolerance in young people with cystic fibrosis

Korten Insa , Kieninger Elisabeth , Krueger Linn , Bullo Marina , E. Flück Christa , Latzin Philipp , Casaulta Carmen , BoettcherClaudia

Background: CFRD is a unique subtype of diabetes mellitus, distinct from type 1 and type 2, harbouring β-cell dysfunction and β-cell loss and insulin resistance. Modulator therapies directly target the underlying defect of CF, modulating or correcting the function of the CFTR gene (mutation-specific). Few studies investigated the effect of modulators on CFRD and glucose metabolism. We performed an observational study on the short-term effects of the ...

hrp0095rfc9.1 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

The Incidence of Congenital Combined Pituitary Hormone Deficiency in Denmark - a national observational study

Kjersgaard Jakobsen Louise , Beck Jensen Rikke , Holtum Birkebæk Niels , Hansen Dorte , Rønholt Christensen Ann-Margrethe , Thybo Christesen Henrik

Background: Congenital combined pituitary hormone deficiency (cCPHD) is the loss of ≥2 pituitary hormones caused by genetic or prenatal factors.Methods: For the period 1996–2020, patients with cCPHD were identified from the Danish National Patient Registry and the registries at the four Danish hospitals approved for the management of cCPHD. Retrospective hospital file reviews were performed to validate the diagn...

hrp0095rfc9.2 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Investigation of Genes Associated with Multiple Pituitary Hormone Deficiencies via Next Generation Sequencing Technology

Pınar Öztürk Ayşe , Toksoy Güven , Baş Firdevs , Yavaş Abalı Zehra , Bagirova Gülendam , Karaman Volkan , Yıldız Melek , Aslanger Ayça , Yeşil Gözde , Poyrazoğlu Şükran , Oya Uyguner Zehra , Darendeliler Feyza

Background: Deficiency of one or more pituitary hormones, often with growth hormone (GH) deficiency, is defined as multiple pituitary hormone deficiencies (MPHD) or congenital hypopituitarism (CH). CH cases are mostly sporadic and have a prevalence of 1/3000-4000 live births. There are many known and yet unknown molecular pathways explaining the complex structure and functions of the pituitary gland. Many different gross and small sequence variants in the gene...

hrp0095rfc9.3 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Peak Serum Luteinizing Hormone Levels during Gonadotropin-Releasing Hormone Analog Test among Lean, Overweight and Obese Girls with Central Precocious Puberty

Sakornyutthadej Natee , Mahachoklertwattana Pat , Wankanit Somboon , Poomthavorn Preamrudee

Background: Elevated serum luteinizing hormone (LH) during gonadotropin-releasing hormone (GnRH) test is documented in girls with central precocious puberty (CPP). Lower LH secretion has been reported in obese girls as compared with lean girls. Few studies have addressed the effect of obesity on peak serum LH levels during GnRH test. This study aimed to determine peak serum LH levels during GnRH analog (GnRHa) test in CPP girls of different body mass index (BM...

hrp0095rfc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Association of Birth Size, Dehydroepiandrosterone Sulfate and Cardiometabolic Risk Factors in Idiopathic Central Precocious Puberty Girls

Zhang Guijiao , Yu Huan , Yu Shengxu , Luo Xiaoping , Wu Wei

Background: Early timing of puberty is associated with worse cardiometabolic health in adulthood. Furthermore, birth weight (BW) is recognized to have implications for pubertal development and cardiometabolic risk factors. The study aimed to examine the independent association between birth size, dehydroepiandrosterone sulfate (DHEAS) and cardiometabolic risk factors in idiopathic central precocious puberty (ICPP) girls.Methods:<...

hrp0095rfc9.5 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal milestones in Prader-Willi syndrome: Is there a role of genetic subtypes and MKRN3 status?

Kodytková Aneta , Dušátková Petra , Anne Amaratunga Shenali , Koloušková Stanislava , Obermannová Barbora , Pomahačová Renata , Průhová Štěpánka , Šnajderová Marta , Šumník Zdeněk , Zapletalová Jiřina , Lebl Jan

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...

hrp0095rfc9.6 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Craniopharyngiomas diagnosed as incidentalomas - Results of KRANIOPHARYNGEOM 2007

Boekhoff Svenja , Bison Brigitte , Eveslage Maria , Sowithayasakul Panjarat , Beckhaus Julia , Friedrich Carsten , L. Müller Hermann

Purpose: Childhood-onset craniopharyngiomas (CP) are diagnosed due to clinical symptoms (symCP) or incidentally (incCP). In childhood-onset CP, studies on history before CP diagnosis have revealed symptoms and complaints related to CP, which were documented in CP patients’ records with a median duration of 5 months prior to CP diagnosis. We investigated clinical manifestations and outcome in incCPs and symCPs.Methods:</stro...

hrp0095rfc10.1 | GH and IGFs | ESPE2022

Clinical and biochemical predictors of Permanent Growth Hormone Deficiency (PGHD) at retesting

Petraroli Maddalena , Messina Giulia , Gnocchi Margherita , Lattanzi Claudia , D'Alvano Tiziana , Argentiero Alberto , Neglia Cosimo , Dora Patianna Viviana , Maria Roberta Esposito Susanna , Elisabeth Street Maria

Background and Aims: Retesting subjects treated with GH throughout childhood at attainment of final height is of importance to identify those having pGHD and needing replacement treatment during transition years and adulthood, and to avoid overtreatment of GH sufficient subjects. This study aimed at evaluating the clinical and biochemical features of patients diagnosed of isolated idiopathic (II) GHD in childhood at retesting to verify the prevalence of perman...

hrp0095rfc10.2 | GH and IGFs | ESPE2022

Severe primary IGF1 deficiency diagnosed by a standardized IGF1/ IGFBP3 generation test : the Belgian experience

Ryckx Sofie , Derycke Christine , Anckaert Ellen , Beauloye Véronique , Beckers Dominique , Brachet Cécile , Den Brinker Marieke , De Waele Kathleen , Dotremont Hilde , Boros Emese , Klink Daniel , Lebrethon Marie-Christine , Lysy Philippe , Mouraux Thierry , Parent Anne-Simone , Rochtus Ann , van der Straaten Saskia , De Schepper Jean

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...