hrp0095rfc7.1 | Growth and Syndromes | ESPE2022

The grandma X-rays-independent height prediction

German Alina , Albertsson-Wikland Kerstin , Shmoish Michael , Rubin Lisa , Niklasson Aimon , Hochberg Ze'ev

Background/Aim: Parents wanting to predict adult height (AH) often resort to the old practice of doubling a boy’s height at age 2 years or a girl’s height at 18 months. We coined this the ’Grandma prediction’ (GMP1). It provides predictions with mean absolute error (MAE) 5.9 and 5.2, standard deviations of residuals (sdRES) 4.1 and 3.6, and Pearson correlation r=0.68 and 0.67 for boys and girls, respectively. The recent sophist...

hrp0095rfc7.3 | Growth and Syndromes | ESPE2022

Genetic analysis of children with clinically non-syndromic tall stature

Adamovicova Katerina , Plachy Lukas , Dusatkova Petra , Lebl Jan , Maratova Klara , Sumnik Zdenek , Neuman Vit , Petruzelkova Lenka , Snajderova Marta , Obermannova Barbora , Kolouskova Stanislava , Malikova Jana , Pruhova Stepanka

Introduction: The genetic investigation of tall stature (TS) is routinely indicated only in children with clinical suspicion of a specific syndrome associated with TS. After ruling out an endocrine disorder, the remaining tall children mostly receive a clinical diagnosis of “idiopathic” (ITS) or “familial” tall stature (FTS). The aetiology of their TS remains unknown.Aims: To elucidate genetic cau...

hrp0095rfc7.4 | Growth and Syndromes | ESPE2022

Efficacy and safety of bilateral epiphysiodesis in extremely tall adolescents

Aeppli Tim , Benyi Emelie , Wehtje Henrik , Sävendahl Lars

Background: Treatment options in extremely tall adolescents are limited. Bilateral epiphysiodesis has been reported to be a safe and effective method to reduce predicted final height. However, there is still limited data on final height and long-term safety.Objective: The aim was to assess the safety and efficacy of bilateral epiphysiodesis to reduce adult height in adolescent girls and boys with extreme tall stature.</p...

hrp0095rfc7.5 | Growth and Syndromes | ESPE2022

A relevant cellular model to study imprinting disorders: dental pulp stem cells

Giabicani Eloïse , Pham Aurélie , Sélénou Céline , Sobrier Marie-Laure , Linglart Agnès , Poliard Anne , Chaussain Catherine , Netchine Irène

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

hrp0095rfc7.6 | Growth and Syndromes | ESPE2022

Hormone Replacement Therapy After Pubertal Induction in Adolescents and Young Adults with Turner Syndrome: A Survey Study

Dowlut-McElroy Tazim , Kanakatti Shankar Roopa

Objective: The majority of individuals with Turner syndrome (TS) experience Primary Ovarian Insufficiency requiring hormone replacement therapy (HRT). As the international consensus guidelines are unclear on the optimal formulation and dosing for HRT after pubertal induction in adolescents and young adults (AYA) with TS, our aim was to assess the current HRT practice patterns of endocrinologists and gynecologists.Methods:</strong...

hrp0095rfc7.2 | Growth and Syndromes | ESPE2022

Once-Weekly Somapacitan vs Daily GH in Children with GH Deficiency: The Randomized Phase 3 REAL 4 Trial

Miller Bradley , Blair Joanne , Højby Michael , Böttcher Volker , Juul Kildemoes Rasmus , Maniatis Aristides , Beck Bang Rikke , Mori Jun , Polak Michel , Stagi Stefano , Horikawa Reiko

Background: Growth hormone (GH) replacement therapy usually requires daily subcutaneous (s.c.) injections that can be burdensome for patients and their caregivers. Long-acting GH formulations aim to establish a less burdensome dosing regimen that is as safe and efficacious as daily GH to potentially improve adherence and clinical outcomes. Somapacitan, a long-acting reversible albumin-binding GH derivative, is in development for once-weekly s.c. administration...

hrp0095rfc8.1 | Diabetes and Insulin | ESPE2022

Clinical Spectrum of HNF4A-mody (Mody1): From Neonatal Hyperinsulinism to Diabetes in Adults

Salamanca Fresno Luis , Itza Martín Nerea , Gomes Porras Mariana , Guerrero Fernández Julio , Ramírez Fernández Joaquin , Abad López Ainhoa , Solís López Mariano , Rodríguez Jiménez Carmen , Lía Nattero Chavez María , Alvarez Escolá Cristina , González Casado Isabel , Campos Barros Ángel

Background and Aims: HNF4A-MODY clinical expression is broad, ranging from hypoglycemic hyperinsulinism in the neonatal period and early childhood to hyperglycemia and diabetes, as insulin secretion progressively decreases in adult patients. The main objective was to clinically and molecularly characterize patients with glycemic alterations, negative autoimmunity and confirmed molecular diagnosis of HNF4A-MODY.Materials and Metho...

hrp0095rfc8.2 | Diabetes and Insulin | ESPE2022

The impact of age, body mass index, and pubertal stage on C-peptide at type 1 diabetes diagnosis

Ayça Cimbek Emine , Ercüment Beyhun Nazım , Karagüzel Gülay

Background: Assessment of beta-cell function in type 1 diabetes (T1D) has important implications in both clinical and research settings. Studies are limited by the lack of adjustments demonstrating the extent to which puberty influences C-peptide levels. The aim of this study was to evaluate the influence of pubertal stage as well as age and body mass index (BMI) on multiple C-peptide measures at T1D diagnosis.Methods: T...

hrp0095rfc8.3 | Diabetes and Insulin | ESPE2022

Peripheral nerve conduction velocity in children and young adults with type 1 diabetes mellitus as a marker of metabolic control

Oberhauser Sarah , l'Allemand Dagmar , Heldt Katrin , Gozzi Tiziana , Stasinaki Aikaterini , Eilers Miriam , Lütschg Jürg , Broser Philip

Background: Nerve conduction velocity (NCV) abnormalities are considered as early signs of peripheral neuropathy in patients with diabetes mellitus (DM). We investigated which determinants NCV is subject to and how it is related to markers of metabolic control.Methods: We included 51 patients treated at the outpatient clinic of paediatric diabetology because of their type 1 DM and randomly assigned them for a nerve condu...

hrp0095rfc8.4 | Diabetes and Insulin | ESPE2022

Developing a regional Southeast Asia diabetes healthcare professional network and webinars programme initiative during the pandemic

Sze May Ng , Lek Ngee , Sahakitrungruang Ngee , Pheng Chan Siew P , Yong Lai Mee , Yazid Jalaludin Muhammad , Thao Bui Muhammad , Nyi Nyi Soe , Ficheroulle Anne-Charlotte , Toomey Charles

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...