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57th Annual ESPE

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

Poster Presentations

Multisystem Endocrine Disorders P1

hrp0089p1-p189 | Multisystem Endocrine Disorders P1 | ESPE2018

Clinical Features and Assessment of the Pathway-Care Proposed by ISPED-Gsa Study Group in an Pediatric Italian Cohort with Pseudohypoparathyroidism

Tessaris Daniele , Bonino Elisa , Matarazzo Patrizia , Tuli Gerdi , Wasniewska Malgorzata , Loche Sandro , Weber Giovanna , de Sanctis Luisa

Background and objective: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare endocrine disorders caused by genetic or epigenetic abnormalities affecting the GNAS locus. It is mainly characterized by resistance to PTH and TSH and a complete or partial Albright Hereditary Osteodistrophy (AHO) phenotype. Few data so far exist on LH/FSH, calcitonin and glucose-lipid metabolism involvement, as well as on neurocognitive aspects. The aim of this multicentre study ...

hrp0089p1-p190 | Multisystem Endocrine Disorders P1 | ESPE2018

Overview of Leading Causes of Death among French Patients with Prader-Willi Syndrome, 2004–2014

Liz Pacoricona Alfaro Dibia , Lemoine Perrine , Molinas Catherine , Diene Gwenaelle , Arnaud Catherine , Tauber Maithe

Introduction: Prader-Willi Syndrome (PWS) is a complex neurodevelopmental genetic disease comprising multiples cognitive, behavioural and endocrine abnormalities. This rare syndrome is one of the most common known reasons of syndromic obesity, a major cause of morbimortality among this population. In the last 20 years, substantial improvements have been made regarding the diagnosis, treatment and management of patients with PWS. Along those progresses, national policies were d...

hrp0089p1-p191 | Multisystem Endocrine Disorders P1 | ESPE2018

SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure

Maharaj Avinaash , Wallace Dean , Banerjee Indi , Prasad Rathi , Metherell Lou

Background: Loss of function mutations in SGPL1 have previously been described by our group in association with a multisystemic disorder encompassing PAI and nephrotic syndrome. SGPL1 encodes, sphingosine 1-phosphate lyase (SGPL1), which irreversibly binds sphingosine 1-phosphate (S1P) and commits it to the final degradative step in sphingolipid metabolism. SGPL1 is therefore a major modulator of S1P signalling. Several sphingolipid intermediates such as cera...

hrp0089p1-p192 | Multisystem Endocrine Disorders P1 | ESPE2018

Final Adult Height, Insulin-like Growth Factor 1 (IGF-I) Concentration in Adolescents and Young Adults with β-Thalassemia Major (BTM) with and Without Growth Hormone Deficiency

Soliman Ashraf , Yassin Mohamed , Sanctis Vincenzo De

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

hrp0089p1-p193 | Multisystem Endocrine Disorders P1 | ESPE2018

McCune-Albright-Syndrome: Clinical and Genetic Study in a Large Cohort of Pediatric Patients

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Kolodkina Anna , Zubkova Natalia , Vasiliev Evgeniy , Tiulpakov Anatoly , Peterkova Valentina

Background: McCune-Albright-Syndrome (MAS) is an extremely rare multisystem disorder that affects bones (fibrous dysplasia), skin (cafe-au-lait spots) and endocrine organs (hyperfunctioning endocrinopathies) and is caused by somatic mutations in GNAS gene.Materials and methods: We have evaluated 55 pediatric patients (44 girls (G) and 11 boys (B)) diagnosed in the period of 20 years. Mutation analyses using competitive allele-specific TaqMan PCR...