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59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

Free Communications

Growth Disorders

hrp0094fc3.1 | Growth Disorders | ESPE2021

iPPSD: focus on neonatal features, preliminary data from a retrospective analysis of a large cohort of patients.

Del Sindaco Giulia , Pagnano Angela , Berkenou Jugurtha , Rothenbuhler Anya , Arosio Maura , Mantovani Giovanna , Linglart Agnes ,

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

hrp0094fc3.2 | Growth Disorders | ESPE2021

Identification of a FBN1 variant in a pedigree affected with Severe Short Stature with a Mild Form of Geleophysic Dysplasia Type 2

MA Huamei , Zhang Jun , Guo Song , Chen Qiuli , LI Yanhong ,

Objective: To explore the genetic basis for a Chinese three-generations pedigree affected with Severe Short Stature with a mild form of Geleophysic Dysplasia Type 2(GD2)Methods: We collected 11 related family members from a Chinese 3-generation pedigree with severe short stature with a mild form of Geleophysic Dysplasia Type 2 GD2. Clinical data of the 11 family members was collected.With genomic DNA...

hrp0094fc3.3 | Growth Disorders | ESPE2021

Genetic characterization of a cohort of children with short stature

Cavarzere Paolo , Turolla Lorenzo , Gaudino Rossella , Baffico Ave Maria , Maffei Massimo , Palma Laura , Pietrobelli Angelo , Coviello Domenico , Antoniazzi Franco ,

Background: Short stature is defined as a height more than two standard deviations below the mean for age and sex. Pathologic causes of short stature include growth hormone deficiency, hypothyroidism, celiac disease, inflammatory bowel disease or other chronic diseases, hormonal abnormalities, and genetic disorders, such as Turner syndrome. Moreover, among other variants of short stature, scholarship also described familial short stature, constitutional delay ...

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

hrp0094fc3.5 | Growth Disorders | ESPE2021

Clinical profiles and genetic spectra of 814 Chinese children with short stature

Li Xin ,

Context: Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including severe short stature (<–3 standard deviation scores) and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown.<p c...

hrp0094fc3.6 | Growth Disorders | ESPE2021

Growth patterns in children with Mucopolysaccharidosis type I-Hurler after haematopoietic stem cell transplantation: comparison with untreated patients

Chiaraluce Sofia , Molinari Silvia , Di Marco Santo , Gasperini Serena , Biondi Andrea , Rovelli Attilio , Parini Rossella , Cattoni Alessandro ,

Background: Mucopolysaccharidosis I Hurler (MPS-IH is an inborn error of metabolism arising from the defective activity of alpha-L-iduronidase, an enzyme involved in the degradation of glycosaminoglycans (GAGs). As a result, the pathological lysosomal storage of GAGs in several tissues leads to multi-systemic complications, such as hepatosplenomegaly, progressive central nervous system deterioration, skeletal dysplasia and faltering growth, commonly resulting ...