hrp0086s2.2 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

Genetics of Thyroid Dysgenesis and Associated Malformations

Polak Michel

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

hrp0094ern1.1 | Endo-ERN Symposium | ESPE2021

Update on the consensus on Congenital Hypothyroidism: a patient-centered approach

Polak Michel ,

Background: An ENDO-ERN initiative was launched which was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis and management of prima...

hrp0084p3-933 | GH & IGF | ESPE2015

Adult Height in Children Born Small for Gestational Age and Treated with GH: Data from the French KIGS Database

Polak Michel , Czernichow Paul

Background: Treatment with GH in children born small for gestational age (SGA) increases height velocity (HV) but data on adult height (AH) are scarce.Objective and hypotheses: To report AH in a group of SGA children treated with GH.Method: This is a post-marketing longitudinal analysis of SGA children treated with GH and included in France in KIGS. Selection criteria were children followed at least one year and having reached AH b...

hrp0089rfc15.4 | Growth and syndromes | ESPE2018

Characteristics, Effectiveness and Safety Data from Clinically Relevant Subgroups of Patients with Severeprimary IGF-I Deficiency (SPIGFD): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Woelfle Joachim , Polak Michel , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry was established to monitor the safety and effectiveness of recombinant human IGF-I (rhIGF-I) (mecasermin (rDNA origin) injection; Increlex®) for short stature in children with SPIGFD, including those with Laron syndrome (LS).Objective: To report patient characteristics, effectiveness and safety data in clinically relevant patient subgroups.Methods: Data were compiled from this ongoin...

hrp0089p1-p184 | Growth & Syndromes P1 | ESPE2018

Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...

hrp0086fc11.2 | Thyroid | ESPE2016

Overexpression of DYRK1A Located in the Down Syndrome Critical Region, Leads to Primary Hypothyroidism in Down Syndrome through Interaction with FOXE1

Kariyawasam Dulanjalee , Carre Aurore , Rachdi Latif , Polak Michel

Background: Down Syndrome (DS) patients have a higher incidence of primary hypothyroidism. We previously demonstrated that transgenic mice overexpressing Dyrk1A had developmental (larger primary thyroids at E15.5 stage of development), morphological (disorganized follicles) and functional (significant lower plasma T4) impairments similar to DS thyroidal impairments (Endocrinology 2015). DYRK1A, localized in the DS critical region on chromosome 21, is therefore the can...

hrp0086rfc6.7 | Syndromes: Mechanisms and Management | ESPE2016

Characteristics of Responders and Poor-responders to Increlex® Therapy – Data from Children Enrolled in the European Increlex® Growth Forum Database (EU-IGFD)

Bang Peter , Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline

Background: The post-authorization registry, EU-IGFD, was initiated in Dec-2008 to collect data in children with growth failure receiving Increlex® (Mecasermin [rDNA Origin] Injection).Objective and hypotheses: To report patient characteristics, safety and effectiveness data in poor-responders (i.e. with change in year 1 Height SDS <0.3).Method: European, multicentre, open-label, observational study; eCRF data collection.<...

hrp0082p1-d3-161 | Growth (2) | ESPE2014

Safety and Effectiveness of Increlex® Therapy in Children Enrolled in the Increlex® Growth Forum Database in Europe: 4 Years Interim Results

Polak Michel , Woelfle Joachim , Bang Peter , Sicsic Aude , Fiorentino Bruno

Background: The post-authorization registry, European Increlex® (Mecasermin (rDNA Origin) injection) growth forum database (EU-IGFD) was initiated in Dec 2008 to collect data on children with growth failure treated with Increlex®.Objective: To report 4-year safety and effectiveness data.Methods: Multicenter, open-label observational study, eCRF data collection.Results: As of 30...

hrp0084p2-420 | GH &amp; IGF | ESPE2015

Hypoglycaemic Adverse Events Reported in Children Enrolled in the European Increlex® Growth Forum Database in Europe (5-Year Interim Data)

Woelfle Joachim , Polak Michel , Bang Peter , Houchard Aude , Sert Caroline

Background: The post-authorisation registry, European Increlex® (mecasermin (rDNA origin) injection) Growth European Increlex Growth Forum Database (EU-IGFD), initiated in December 2008, collects safety and efficacy data in children receiving Increlex® for growth failure. Hypoglycaemia has been reported as a common adverse event (AE) during any IGF1 replacement therapy in randomised clinical trials, and is therefore of interest in real-life sett...

hrp0084p3-995 | Gonads | ESPE2015

Puberty and Gonadal Function in Adolescents Girls after Renal Transplantation

Hecquet Blandine , Charbit Marina , Polak Michel , Bidet Maud

Background: Renal transplantation (RTx) is the most common solid organ transplant procedure. Several studies have reported on puberty and gonadal function in female RTx recipients with controversial results.Objective: We sought to describe puberty and gonadal function in adolescents after RTx before 16 years.Methods: We reported retrospectively the clinical signs of puberty, growth, medication and graft function of 20 girls aged 19...