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

Bone, Growth Plate and Mineral Metabolism

hrp0097fc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hearing loss in pseudohypoparathyroidism (inactivating PTH/PTHRP Signaling Disorder): a prospective study to assess prevalence and predictive factors of hearing loss in 44 patients affected with iPPSD/PHP

Djian Cassandre , Berkenou ugurtha , Rothenbuhler Anya , Botton Jérémie , Linglart Agnès , Nevoux Jérôme

Background: Since the first description of inactivating PTH/PTHrP signaling disorders [(iPPSD, former pseudohypoparathyroidism (PHP)] a remarkable clinical variability was observed, apparently age-dependent. The main clinical features, including PTH resistance, brachydactyly and short stature, develop during middle and late childhood. Hearing loss (HL) is commonly found in iPPSD/PHP. Only a few studies approached the subject of hearing loss in iPPSD/PHP and th...

hrp0097fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

First Results of the Global ALPL Gene Variant Classification Project

R Farman Mariam , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Ángel Martos-Moreno Gabriel , Linglart Agnès , Ozono Keiichi , Seefried Lothar , del Angel Guillermo , Högler Florian , Barbazza Francesca , K John Lisa , M. A. Delana Mudiyanselage Sewmi , Burner Nading Erica , Huggins Erin , T Rush Eric , El-Gazzar Ahmed , S Kishnani Priya , Webersinke Gerald , Högler Wolfgang

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

hrp0097fc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hyperparathyroidism after three years of burosumab in children affected with x-linked hypophosphatemia

V Zhukouskaya Volha , Ertl Diana-Alexandra , Berkenou Jugurtha , Audrain Christelle , Bardet Claire , Rothenbuhler Anya , Linglart Agnes

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

hrp0097fc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A real-world study in Germany and Switzerland regarding renal health in children with X-linked hypophosphatemia

Böckmann Ineke , Leifheit-Nestler Maren , John Ulrike , Metzing Oliver , Rehberg Mirko , Peter Schlingmann Karl , Kemper Markus , Patzer Ludwig , Weitz Marcus , Wühl Elke , Freiberg Clemens , Sparta Giuseppina , Hiort Olaf , Schnabel Dirk , Hoppe Bernd , Haffner Dieter

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

hrp0097fc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Generation of novel genetic zebrafish models and using RNA-seq analysis to explore the role of ankrd11 gene on bone growth

Shangguan Huakun , Zeng Yan , Zhang Qianru , Chen Ruimin

Key words: KBG syndrome, ANKRD11, zebrafish, CRISPR/CasRx, Wnt signaling pathwayBackground: KBG syndrome (KBGS) is a rare condition caused by variant in ANKRD11 gene, which is characterized by intellectual disability, distinctive facial features, macrodontia of the upper central incisors, skeletal anomalies and short stature. Patients carrying loss-of-function ANKRD11 variants exhibit short stature due to defects of bone develop...

hrp0097fc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Human breast milk-derived exosomes promote growth plate cell lines in vitro

Eren Simge , Kabataş Bilge , Ünsal Naz , Yıldırım Merve , Eren Olcay

Introduction: Human breast milk (HBM) contains various components with critical roles in supporting early human growth and development. HBM is highly enriched in miRNAs, short, non-coding RNAs of 18 to 25 nucleotides in length, involved in the development, differentiation, proliferation, metabolism, and death of cells and tissues. miRNAs have been linked to growth control, apoptosis, epigenetic modifications, developmental programming, stem cell differentiatio...