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

Rapid Free Communications

Growth and syndromes (to include Turner syndrome)

hrp0097rfc4.1 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Functional networks reveal pathways linking early growth to childhood blood pressure in the Manchester BabyGRO Study

Perchard Reena , Garner Terence , Stevens Adam , Higgins Lucy , Johnstone Edward , Clayton Peter

Background: Many studies have associated being born small for gestational age (SGA) [and by implication having suboptimal fetal growth (SFG)] to childhood cardiometabolic risk markers. However, not all growth-restricted pregnancies result in SGA. In the Manchester BabyGRO study, we focussed on pregnancies at risk of SFG with most babies born AGA, and using transcriptomic and metabolomic data we have identified pathways related to higher child systolic blood pr...

hrp0097rfc4.2 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Molecular genetic diagnosis in children with Idiopathic Short Stature: Single Center Experience

Arslan Emrullah , Ece Solmaz Aslı , Avci Enise , Gul Balkı Hanife , Ozalp Kızılay Deniz , Jalilova Arzu , Er Eren , Goksen Damla , Ozen Samim , Darcan Sukran

Introduction: Idiopathic short stature(ISS) refers to children who are short because there is no identifiable defect in the growth hormone (GH)/insulin-like growth factor(IGF) axis and no other endocrine or genetic disorders. The genetic etiology of ISS in children was investigated in this study using targeted next-generation sequencing(NGS).Method: Eighty patients with short stature of unknown etiology were included in ...

hrp0097rfc4.3 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Aromatase inhibitors: an effective and safe option for height increment in boys with growth hormone deficiency?

Kağızmanlı Gözde Akın , Özalp Kızılay Deniz , Besci Özge , Yüksek Acinikli Kübra , Özen Samim , Demir Korcan , Damla Gökşen Şimşek Ruhsar , Böber Ece , Darcan Şükran , Abacı Ayhan

Background: Aromatase inhibitors (AIs) have been suggested to slow down estrogen-dependent skeletal maturation in pubertal boys with short stature. In the literature, few studies evaluate the efficacy and safety of AIs in boys with growth hormone deficiency (GHD). Objective: To evaluate the auxologic effects and short-term laboratory profiles of combined AI and rhGH therapy in adolescent males with GHD.Subjects and Methods:</stro...

hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic findings in short Turkish children born to consanguineous parents

Joustra Sjoerd , Isik Emregul , M. Wit Jan , Catli Gonul , Anik Ahmet , Haliloglu Belma , Kandemir Nurgun , Ozsu Elif , Hendriks Yvonne , de Bruin Christiaan , Kant Sarina , Campos-Barros Angel , Challis Rachel , Parry David , Harley Margaret , Jackson Andrew , Losekoot Monique , van Duyvenvoorde Hermine

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

hrp0097rfc4.5 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Real-world safety and effectiveness of vosoritide: Results from an early access program in France

Cormier-Daire Valérie , Edouard Thomas , Isidor Bertrand , Cohen Shelda , Mukherjee Swati , Pimenta Jeanne , Lhaneche Leila , Rossi Massimiliano , Schaefer Elise , Goodman Erin , Sigaudy Sabine , Baujat Geneviève

Introduction: Achondroplasia is the most common skeletal dysplasia, in which the main clinical feature is short stature. Vosoritide, the first specific treatment for achondroplasia; administered as a daily subcutaneous injection, was approved by the European Medicines Agency in August 2021 for patients aged ≥2 years until closure of epiphyses. French Health Authorities granted early access to vosoritide treatment in France on 24 June 2021, which continued u...

hrp0097rfc4.6 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Results from the PROPEL 2 dose-finding study: oral infigratinib leads to significant increases in height velocity with good tolerability in children with achondroplasia

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Saraff Vrinda , Delgado Borja , Leiva-Gea Antonio , McDevitt Helen , Nicolino Marc , Rossi Massimiliano , Salcedo Maria , Cormier-Daire Valerie , Skae Mars , Kannu Peter , B. Bober Michael , Phillips III John , Saal Howard , Harmatz Paul , Burren Christine , Candler Toby , Cho Terry , Muslimova Elena , Weng Richard , Raj Supriya , Hoover-Fong Julie , Irving Melita , Rogoff Daniela

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...