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

Bone, Growth Plate and Mineral Metabolism

hrp0097rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Identification of novel genes including NAV2 associated with isolated tall stature

Weiss Birgit , Ott Tim , Vick Philipp , C. Lui Julian , Vogel Sebastian , Roeth Ralph , Waldmüller Stephan , Hoffmann Sandra , Baron Jeffrey , Wit jan-Maarten , Rappold Gudrun

Background: Very tall people attract a lot of attention and represent a clinically and genetically heterogenous group of individuals. Identifying the genetic etiology can provide important insights into the molecular mechanisms regulating linear growth.Methods and Results: We studied a three-generation pedigree with several isolated (non-syndromic) tall members by whole exome sequencing; the tallest man had a height of 2...

hrp0097rfc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Familial pseudohypoparathyroidism type IB associated with an SVA retrotransposon insertion in the GNAS locus.

Kagami Masayo , Kawashima Sayaka , Yuno Akiko , Sano Shinichiro , Nakamura Akie , Ishiwata Keisuke , Kawasaki Tomoyuki , Hosomichi Kazuyoshi , Nakabayashi Kazuhiko , Akustu Hidenori , Saitsu Hirotomo , Fukami Maki , Usui Takeshi , Ogata Tsutomu

Loss of methylation (LOM) at GNAS-A/B:TSS-differentially methylated regions (DMRs) in the GNAS locus is observed in pseudohypoparathyroidism type 1B (PHP1B). Many PHP1B cases are sporadic, but autosomal dominant-PHP1B has a deletion involving NESP55 expressed from the maternal allele or STX16 located upstream of the GNAS locus on the maternal allele. We report the possible first familial PHP1B cases with retrotransposon insertion in the GNAS locus on the maternal allele. To ou...

hrp0097rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

High incidence of Chiari type I anomalies on MRI in young patients with X-linked hypophosphatemic rickets (XLHR)

Rothenbuhler Anya , Parpaleix Alexandre , Debza Yahya , Adamsbaum Catherine , Linglart Agnès , Ertl Diana-Alexandra , Di Rocco Federico

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia. Even though skull and cranio-vertebral anomalies of potential neurosurgical interest are observed in children with XLHR, their actual incidence and characteristics are not well established. We aimed to analyze the incidence of Chiari type I anomalies in children with XLHRMethods and materials: Our retrospecti...

hrp0097rfc2.4 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Documentation of inactivating PTH/PTHrP Signaling Disorders (Pseudohypoparathyroidism) cases in EuRRECa / EuRR-Bone: a challenging, but worthwhile journey

Ertl Diana-Alexandra , Mantovani Giovanna , Perez de Nanclares Guiomar , Cherenko Mariya , M. de Rooij Tess , L Priego Zurita Ana , M Appelman- Dijkstra Natasha , S Ahmed Faisal , Bryce Jillian , Linglart Agnès

Background: A new classification of pseudohypoparathyroidism is available (Thiele et al. 2016, J Endocrinol). The phenotype variability of inactivating PTH/PTHrP Signaling Disorders (iPPSD, former pseudohypoparathyroidism) cases is still very challenging, even for experts. Thus, it is crucial to collect data in a centralized manner for future investigation.Methods: The EuRRECa/EuRR-Bone registries are the first ...

hrp0097rfc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Growth in young children with X-linked hypophosphatemia treated with burosumab

Ertl Diana-Alexandra , Sala Elisa , Trabado Séverine , Audrain Christelle , Berkenou Jugurtha , Rothenbuhler Anya , Lambert Anne-Sophie , Linglart Agnes

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...

hrp0097rfc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Short term side effects of first bisphosphonate infusion in children with different underlying bone pathologies.

Cheung Moira , Raimann Adalbert , Semler Oliver , Högler Wolfgang

Background: Bisphosphonates act to increase bone mass by inhibition of osteoclastic bone resorption and reduction of bone turnover. Since the successful use of bisphosphonates in children with osteogenesis imperfecta, a broad range of pediatric indications with variable underlying pathomechanism emerged. While the use of bisphosphonates appears to be safe in children, data on risk factors for acute-phase reaction are sparse. A systematic characterization of si...