hrp0092rfc15.1 | Late Breaking Abstracts | ESPE2019

Preclinical Studies of Acrodysostosis Gene AAV Therapy in a Knock-In R368X PRKAR1A Mouse Model

Le Stunff Catherine , Gunes Yasemin , Mille Clémence , Bougnères Pierre

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

hrp0092rfc15.6 | Late Breaking Abstracts | ESPE2019

Absence of Puberty and Estrogen Resistance by Estrogen Alpha Receptor Inactivation in Two Sisters: A Mutation for Variable Phenotypic Severity

Delcour Clémence , Khawaja Nahla , Mammeri Hedi , Drira Leila , Chevenne Didier , Ajlouni Kamel , De Roux Nicolas

Introduction: Estrogens play an essential role in reproduction and their peripheral action is mediated via nuclear alfa and beta receptors (ER) as well as membrane receptors. To date, only 3 females and 2 males from 3 families with a loss of function of ERa have been reported. The phenotype in these families was strongly suggestive of an estrogen resistance with an absence of a complete puberty, a delay in epiphyseal maturation with high estradiol levels and e...

hrp0092fc14.1 | GH and IGF1 | ESPE2019

Inhibition of IGF1R by IGF1R/IR Inhibitor OSI906 as a Targeted Therapy for Glioblastoma: in vitro & in vivo Studies

Fernandez Maria Celia , Martin Ayelen , Clément Florencia , Venara Marcela , Fernanda Castro Julia , Lombardi Mercedes Garcia , Bergadá Ignacio , Pennisi Patricia

Background: CNS tumours are the most frequent solid tumours in children. In pediatric gliomas, IGF1R nuclear localization was significantly associated with both high grade tumours and increased risk of death and contributed to the aggressive phenotype of glioblastoma by increasing motility and metabolism of tumour cells rather than increasing its proliferation. For children chemotherapy after surgical resection is the mainstay of therapy. However, the best reg...

hrp0092p1-359 | GH and IGFs (2) | ESPE2019

Insulin-Like Growth Factor 2 in Pediatric Gliomas: Expression, Intracellular Localization and Association with Clinical Outcome

Clément Florencia , Martin Ayelen , Venara Marcela , Fernández María Celia , Lombardi Mercedes García , Bergadá Ignacio , Pennisi Patricia

Background and Aim: Gliomas are the most frequent solid tumors in pediatric population. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. In a previous work we have reported the quantitation of some components of the IGFs system in SNC pediatric tumours (IGF-1, IGF-2, IGF-1R, IR), being IGF-2 expression the most variable among all the genes studied.Our aim w...

hrp0092lb-4 | Late Breaking Posters | ESPE2019

Resistance to Thyroid Hormone Alpha Associated with Early-Onset Severe NASH

Pautasso Valentina , Dumant-Forrest Clémentine , Guerrot Anne-Marie , Fraissinet François , Savagner Frédérique , Castanet Mireille

Introduction: Resistance to thyroid hormone alpha (RTH╬▒) is characterised by tissue-specific hypothyroidism associated with barely normal thyroid function tests. Clinical features include dysmorphic facies, skeletal dysplasia, growth retardation, constipation, dyspraxia and intellectual deficit. Hormonal assessment often shows decreased/low-normal free thyroxine (fT4) and increased/high-normal free triiodothyronine (fT3) concentrations, resulting in a low...

hrp0092p3-157 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bardet-Biedl Syndrome: A Case Series

Mendes Ana Raquel , Lopes Andreia , Lobo Ana Luísa , Ferreira Cristina , Isolina Aguiar Maria , Tavares Cláudia , Meireles Carla

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

hrp0092lb-11 | Late Breaking Posters | ESPE2019

Height in Inborn Errors of Metabolism Requiring Hypoprotidic Diet: A Longitudinal Follow Up Study About 213 Patients

Busiah kanetee , Roda Célina , Brassier Anaïs , Pontoizeau Clément , Ottolenghi Chris , Piketty Marie , Crosnier Anne-Sophie , Perin Laurence , Le Bouc Yves , Netchine Irène , De Lonlay Pascale

Background: Protein intake is crucial for growth. Many inherited metabolic diseases (IMD) require a strict controlled protein diet.Aim: to evaluate growth, pubertal status and body composition in IMD requiring a strict controlled protein diet.Patients & Méthods: Longitudinal follow up cohort study. We recorded data before 4years (early childhood, n=189); betwe...