ESPE Abstracts

ESPE Abstracts

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57th Annual ESPE (ESPE 2018)

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

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GH & IGFs

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Diabetes and Insulin 1
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Thyroid

hrp0089rfc4.7 | GH & IGFs | ESPE2018

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hrp0089rfc4.2 | GH & IGFs | ESPE2018

Data Mining and Computational Analysis of Human Growth Hormone Gene (GH1) Sequence in Normal Population to Identify Potential Variants with Disease-Causing Effects

Verma Sonia , Pandey Amit V

Background: Mutations in GH1 gene cause isolated growth hormone deficiency. Several disease-causing mutations from patients with IGHD have been reported. These mutations have been shown to (a) produce shorter isoforms of GH that does not bind to growth hormone receptor, (b) cause diminished secretion of GH or (c) result in misfolded GH protein. Large sequencing studies from the non-clinical population show several hundred genetic variations in GH1 gene. Role of common polymorp...
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hrp0089rfc4.3 | GH & IGFs | ESPE2018

A Deletion Encompassing Exon 2 of the ALS Gene: Analysis of a Patient with ALS Deficiency and His Family

Poggi Helena , Arancibia Monica , Benavides Felipe , Lagos Carlos , Vecchiola Andrea , Dominguez-Menendez Gonzalo , Martinez-Aguayo Alejandro

The main role of the acid-labile subunit (ALS) is to stabilize the IGFBP3/IGF complexes. Pathogenic variants in the gene coding for ALS (IGFALS) results in IGF1 and IGFBP3 deficiency, short stature, delay puberty and insulin resistance. The aim of these study was to identify the genetic cause in a patient with suspected ALS deficiency. The proband is the third son of non-consanguineous parents, evaluated for the first time at 17.3 years due to short stature (−2....
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hrp0089rfc4.4 | GH & IGFs | ESPE2018

A Longitudinal Study on miRNAs Circulating Levels in a Cohort of SGA and AGA Subjects, Evaluated During Childhood and Young Adulthood

Inzaghi Elena , Kistner Anna , Deodati Annalisa , Germani Daniela , Legnevall Lena , Vanpee Mireille , Berinder Katarina , Cianfarani Stefano

Background: Low birth weight is associated with increased cardio-metabolic diseases in adulthood. Specific circulating miRNA seem to be predictive of cardio-metabolic risk.Objective: Our aim was to investigate the circulating levels of mir-122, mir-16, mir-126, and mir-486 in a cohort of SGA and AGA subjects, evaluated longitudinally in childhood and early adulthood.Method: Anthropometric and biochemical-metabolic evaluations were ...
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hrp0089rfc4.5 | GH & IGFs | ESPE2018

12-Month Effects of Once-Weekly and Twice-Monthly Administration of Hybrid Fc-Fused Human Growth Hormone, GX-H9, Treatment in Pediatric with GHD Deficiency

Malievskiy Oleg , Mykola Aryaev , Nataliya Zelinska , Bolshova Elena V , Senatorova Ganna , Oroszlan Gyorgy , Skorodok Julia , Peterkova Valentina , Nataliya Chorna , Sorokman Tamila , Yang Seung , Lee Ji Eun , Muzsnai Agota , Hwang Jin Soon , Lee Sang Yoon , Choi Yun Jung , Ji Hyi-Jeong , Woo Jungwon , Sung Young-Chul

GX-H9 is a long-acting form of recombinant human GH under clinical development for both adults and children with GH deficiency (GHD). This study was designed to compare 12-month effects of once-weekly and twice-monthly (every other week; EOW) administration of GX-H9 treatment to that of Genotropin®, in pediatric patients with GHD. A randomized, open-label, active-controlled, parallel study was conducted at 27 endocrinology centers in 10 countries (Europe and Ko...
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hrp0089rfc4.6 | GH & IGFs | ESPE2018

Effect of 2 Years of Growth Hormone Treatment on Glucose Tolerance in Adults with Prader-Willi Syndrome

Damen Layla , Donze Stephany , Kuppens Renske , Bakker Nienke , Hokken-Koelega Anita

Background: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone (GH) treatment are well established. GH has substantially changed the phenotype of children with PWS. Discontinuation of GH after adult height (AH) attainment leads to a decrease in lean body mass and an increase in body fat percentage. Due to their abnormal body composition, adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mellitus type 2 (T2DM). Re...
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