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

Free Communications

Growth and syndromes (to include Turner syndrome)

hrp0097fc4.1 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Heterozygous Null Mutations in FLNB as a Cause of apparent isolated Short Stature in Chinese Children

Chen Ting , Zhou Huiting , Chen Linqi

Background: FLNB encodes filamin B (FLNB), a protein expressed in human growth plate chondrocytes, building the cytoskeleton that gives structure to cells and allows them to change shape and move. Biallelic loss-of-function mutations in FLNB result in spondylocarpotarsal synostosis (SCT; OMIM: 272460), while heterozygous null mutations related isolated short stature (ISS) have not been well described previously.Objective:</strong...

hrp0097fc4.2 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic and phenotypic features of children with familial tall stature

Gregorova Katerina , Plachy Lukas , Dusatkova Petra , Maratova Klara , Lebl Jan , Kolouskova Stanislava , Snajderova Marta , Sumnik Zdenek , Obermannova Barbora , Neuman Vit , Pruhova Stepanka

Introduction: Familial tall stature (FTS) is defined as height taller than +2 SD in a subject growing within his/her midparental height (MPH) with no apparent dysmorphic features. FTS is routinely not an indication for genetic investigation. However, some subtle dysmorphic features of various genetic disorders might be missed justifying the need for further investigation.Aims: To elucidate the genetic cause of FTS and to...

hrp0097fc4.3 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

Punt Lauren , Kooijman Sander , van der Kaay Danielle , van Tellingen Vera , Bakker - van Waarde Willie , Boot Annemieke , van den Akker Erica , van Boekholt Anneke , van Duyvenvoorde Hermine , van Nieuwaal - Van Maren Nancy , Woltering Claire , Heijligers Malou , van der Heyden Josine , Bannink Ellen , Losekoot Monique , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

hrp0097fc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Growth failure in aggrecan haploinsufficiency is due to a decrease in growth plate matrix volume and hypertrophic cell size

Bendre Ameya , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Background: Heterozygous loss-of-function mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (SSOAOD; OMIM#165800). ACAN mutations is a relatively common finding in idiopathic short stature (ISS) and has been reported to be the cause of growth failure in approximately 2% of children with ISS. However, the underlying cellular and molecular mechanisms by ...

hrp0097fc4.5 | Growth and syndromes (to include Turner syndrome) | ESPE2023

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Kodytková Aneta , Anne Amaratunga Shenali , Zemková Daniela , Maratová Klára , Dušátková Petra , Plachý Lukáš , Průhová Štěpánka , Koloušková Stanislava , Lebl Jan

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...

hrp0097fc4.6 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Persistence of Growth Promoting Effects in Infants and Toddlers with Achondroplasia: Results in Children Aged Over 2 Years Old from a Phase II Extension Study with Vosoritide

Savarirayan Ravi , Irving Melita , R Wilcox William , Harmatz Paul , Phillips John , III , E Polgreen Lynda , Tofts Louise , Ozono Keiichi , Arundel Paul , A Bacino Carlos , Basel Donald , B Bober Michael , Charrow Joel , Mochizuki Hiroshi , Kotani Yumiko , M. Saal Howard , Han Lynn , Sabir Ian , Fisheleva Elena , Huntsman-Labed Alice , Day Jonathan

Introduction: Vosoritide increases growth in children with achondroplasia aged 5–18 years (Savarirayan et al, Genet Med, 2021). We recently reported results from a phase 2, randomized, double-blind, placebo-controlled study (111-206) in young children with achondroplasia aged 3 months–5 years Here we present results from an open-label extension study (111-208) spanning up to 4 years of treatment in the children aged 2-5 years at study star...