hrp0092t18 | Top 20 Poster | ESPE2019

Early Treatment with Intravenous Bisphosphonates Prevents Severe Postnatal Bone Loss in Children with Osteogenesis Imperfecta

Rehberg Mirko , Heistermann Johanna , Schönau Eckhard , Semler Jörg , Hoyer-Kuhn Heike

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

hrp0086rfc11.5 | Thyroid | ESPE2016

Novel Homozygous Mutation in the Sodium/Iodide Symporter (NIS) Gene Highlight by Next Generation Sequencing (NGS) in a Patient with Congenital Hypothyroidism

Petit Isabelle Oliver , Gennero Isabelle , Savagner Frederique

Background: The ability to concentrate iodide actively is a characteristic feature of the thyroid gland. This function is mediated through the sodium iodine symporter (NIS), a glycoprotein located in thyrocytes’membrane. Iodide transport defect (ITD) by NIS defects can result in hypothyroidism with variable degree of goiter and low to absent radio iodide uptake. Mutations in SLC5A5 gene encoding NIS are reported to be a rare form of dyshormonogenetic congenital hypothyroi...

hrp0094p2-31 | Adrenals and HPA Axis | ESPE2021

Investigation of usage and acceptance of hydrocortisone granules in capsules for opening in children with adrenal insufficiency

Hilger Julia , Blankenstein Oliver , Neumann Uta ,

Context: Off-label and unlicensed use is widespread in medical therapy of children. Since 2007 there is an EU regulation, which includes the need for a pediatric investigation plan (PIP) in the drug approval process. In 2018, hydrocortisone granules in capsules for opening (Alkindi®) became the first medicine to be approved for the treatment of adrenal insufficiency in children from birth.Methods: An anonymised onli...

hrp0082p2-d3-439 | Growth Hormone (2) | ESPE2014

GH Dosing Patterns in Short Children Born Small for Gestational Age

Petit Isabelle Oliver , Blankenstein Oliver , Zdravkovic Dragan , Tonnes Pedersen Birgitte , Pournara Effie

Introduction: In Europe, GH is approved for short (height SDS <−2.5) children born small for gestational age (SGA) who fail to show catch-up growth by 4 years of age.Methods: This report analysed the patterns of GH dose used in everyday clinical practice based on short children born SGA enrolled in NordiNet® IOS, an observational study evaluating the long-term effectiveness and safety of Norditropin®. Average GH ...

hrp0092p2-67 | Diabetes and Insulin | ESPE2019

Periodontal Disease Among Children and Adolescents with Type 1 Diabetes Mellitus

Babiker Omer , Osuji Oliver , Qudah Mansour , Al Brahim Nahla

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...

hrp0089p1-p260 | Thyroid P1 | ESPE2018

Multinodular Goiter in Childhood: A Diagnostic Gateway for Screening DICER1 Syndrome

Petit Isabelle Oliver , Grunenwald Solange , Golmard Lisa , Savagner Frederique

Background: DICER1 is a member of the Ribonuclease III family that plays a crucial role in the biogenesis and the maturation of microRNAs. Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations: in addition to first described pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumours, individuals may also develop benign (multinodular goiter MNG, cystic nephroma\.) or malignant tumours as differen...

hrp0082p2-d1-589 | Thyroid | ESPE2014

No Difference in Cognitive Development of Young Adults and Adolescents Affected by Congenital Hypothyroidism Compared to Their Sibling Controls Despite High Dose L-Thyroxin Treatment

Aleksander Paulina , Blankenstein Oliver , Gruters Annette , Krude Heiko

Background: An early diagnosis and treatment based on neonatal screening offers a normal cognitive development in patients affected with congenital hypothyroidism (CH). However, several studies within cohorts of young adults have shown a still existing difference compared to control groups of up to eight IQ points. Moreover it has been claimed recently that a high L-T4 dose with subsequent episodes of overtreatment results in less favourable IQ outcom...

hrp0084p1-132 | Thyroid | ESPE2015

Severe Hyperthyroidism in an Infant Revealed a Familial Non-Autoimmune Hyperthyroidism with Novel Heterozygous Thyrotropin Receptor Gene Mutation

Petit Isabelle Oliver , Savagner Frederique , Edouard Thomas , Caron Philippe

Background: The familial non-autoimmune hyperthyroidism (FNAH) is a hereditary disease caused by dominant activating mutations of the TSH receptor (TSHR) gene and rare in the paediatric population.Case presentation: A 20-month girl was referred for tachycardia. In personal history, she was delivered at 35 weeks of gestation by caesarean for fœtal tachycardia; she had been hospitalised at 1 and 5 months for diarrhoea and tachycardia was noticed. Clin...

hrp0084p3-940 | GH &amp; IGF | ESPE2015

GH Dosing Patterns in Children with Isolated GH Deficiency and Multiple Pituitary Hormone Deficiency Enrolled in the NordiNet® International Outcome Study

Snajderova Marta , Pournara Effie , Pedersen Birgitte Tonnes , Blankenstein Oliver

Background: Long-term monitoring of GH treatment in children is very important.Objective and hypotheses: To describe patterns of GH dosing in clinical practice in children with isolated GH deficiency (IGHD) and multiple pituitary hormone deficiency (MPHD).Method: We analysed 7 years of GH treatment data from NordiNet® International Outcome Study (IOS) (NCT00960128), an observational study evaluating the long-term effectiveness...

hrp0084p3-1069 | Hypo | ESPE2015

Experience Based on 193 18F-DOPA PET CTs in Patients with Congenital Hyperinsulinism: Pearls and Pitfalls in Imaging Diagnostics in Patients with CHI

Kuhnen Peter , Prasad Vikas , Brenner Winfried , Mohnike Wolfgang , Blankenstein Oliver

Background: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...