hrp0089p1-p144 | GH & IGFs P1 | ESPE2018

A New p.(Ile66Serfs*93) IGF2 Variant Is Associated with SRS-like Phenotype

Rockstroh Denise , Pfaffle Heike , Le Duc Diana , Roszler Franziska , Schlensog-Schuster Franziska , Heiker John T , Kratzsch Jurgen , Kiess Wieland , Lemke Johannes , Abou Jamra Rami , Pfaffle Roland

The Silver-Russel syndrome (SRS) is characterized by an intrauterine growth retardation accompanied by postnatal growth deficiency. Affected individuals typically have proportionately short statue, finger deformities as well as typical facial features. About 10% of individuals with SRS have maternal uniparental disomy for chromosome 7 (UPD7) and 35%–50% showed hypomethylation of the parental imprinting center region 1 (ICR1) of chromosome 11p15.5. In the recent past also ...

hrp0089p1-p183 | Growth & Syndromes P1 | ESPE2018

Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile

Gopel Eric , Klammt Jurgen , Rockstroh Denise , Pfaffle Heike , Schlicke Marina , Bechtold-Dalla Pozza Susanne , Gannage-Yared Marie-Helene , Gucev Zoran , Mohn Angelika , Harmel Eva-Maria , Volkmann Julia , Bogatsch Holger , Beger Christoph , Gausche Ruth , Weihrauch-Bluher Susann , Pfaffle Roland

Objective: IGF-1 receptor mutations (IGF1RM) are a rare abnormality; however, affected patients exhibit severe postnatal growth retardations without catch-up growth. Although several cases of IGF1RM have been described, a comprehensive retrospective analysis of the potential benefit of rhGH treatment is still missing. The aim of this study was therefore to investigate baseline auxology, response to rhGH therapy and potential metabolic effects in patients with IGF1RM in compari...

hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

hrp0089fc9.1 | Pituitary, neuroendocrinology and Puberty 1 | ESPE2018

Novel Variants in the POU1F1 Beta Isoform are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency

Hoppmann Julia , Rockstroh-Lippold Denise , Gergics Peter , Nakaguma Marilena , Carvalho Luciani Renata Silveira , Pfaeffle Heike , Jamra Rami Abou , Jorge Alexander , Guo Michael H. , Dauber Andrew , Keller Eberhard , Camper Sally A. , Arnhold Ivo JP , Pfaeffle Roland

Background: Hypopituitarism is characterized by deficiency of one or more anterior pituitary hormones. POU1F1 mutations are the second most frequent known cause of combined pituitary hormone deficiency (CPHD). Patients are typically deficient in GH, TSH, and prolactin, although two unrelated cases were reported with isolated GH deficiency (IGHD). To date, all POU1F1 mutations have been reported for the predominantly expressed alpha isoform, which is a transcr...

hrp0089rfc15.6 | Growth and syndromes | ESPE2018

Latest Results from PATRO Children, a Multi-Centre, Non-Interventional Study of the Long-Term Safety and Efficacy of Omnitrope® in Children Requiring Growth Hormone Treatment

Kanumakala Shankar , Pfaffle Roland , Hoybye Charlotte , Kristrom Berit , Battelino Tadej , Zabransky Markus , Zouater Hichem

Objectives: PATRO Children is a non-interventional, international, longitudinal study of the long-term safety of a recombinant human growth hormone (rhGH; Omnitrope®, Sandoz). In particular, the study will assess the diabetogenic potential of rhGH and the risk of malignancies. The long-term efficacy is a secondary objective of the study.Methods: The study population includes infants, children and adolescents receiving Omnitrope®...

hrp0089p1-p153 | GH & IGFs P1 | ESPE2018

Testing the Performance of a Preexisting Growth Prediction Model in a Cohort of Prepubertal Patients Born Small for Gestational Age (SGA) Receiving GH Treatment in PATRO Children

Land Christof , Pfaffle Roland , Schwab Karl Otfried , Sommer Heide , Partsch Carl Joachim

Aim and background: Growth hormone (GH) treatment of short children born SGA and its effects on growth varies greatly between treated individuals. In the present study we tested the performance of a preexisting growth prediction model (Ranke et al.; JCE&M 2003 pp. 125–131) to estimate 1st-year height velocity (HV) in a german subcohort of prepubertal children born SGA treated with GH (Omnitrope).Methods: 190 treatment-naïve prepu...

hrp0089p2-p398 | Thyroid P2 | ESPE2018

Diagnosis and Clinical Course of Amiodarone Induced Hyperthyroidism in Three Adolescent Patients

Gesing Julia , Hoppmann Julia , Gebauer Roman , Pfaffle Roland , Bertsche Astrid , Kiess Wieland

Amiodarone induced hyperthyroidism is a known side effect of amiodarone treatment. In the pediatric population long-term amiodarone treatment is rarely indicated because of its severe side effects including thyroid function impairment and therefore treatment is restricted to therapy resistant arrhythmias. In the literature scarce data is available on management and therapy of amiodarone induced thyroid dysfunction at a young age. We present three adolescent patients developin...

hrp0086p1-p634 | Growth P1 | ESPE2016

Four-Year Results from PATRO Children, a Multi-Centre, Non-Interventional Study of the Long-Term Safety and Efficacy of Omnitrope® in Children Requiring Growth Hormone Treatment

Pfaffle Roland , Kanumakala Shankar , Charlotte Hoybye , Berit Kristrom , Markus Zabransky , Tadej Battelino , Michel Colle

Background: PATRO Children is an international, open, longitudinal, non-interventional study of the long-term safety and efficacy of Omnitrope®, a biosimilar recombinant human GH (rhGH).Objective and hypotheses: The primary objective of PATRO Children is to assess long-term safety of Omnitrope® (particularly the diabetogenic potential of GH in short children born small for gestational age, the risk of malignancies, and oth...

hrp0086p2-p857 | Syndromes: Mechanisms and Management P2 | ESPE2016

A Case of Familial Silver-Russell Syndrome

Hoppmann Julia , Netchine Irene , Eggermann Thomas , Jamra Rami Abou , Kiess Wieland , Pfaffle Roland

Background: Silver-Russell syndrome (SRS) is a heterogeneous condition characterized by intrauterine growth restriction, relative macrocephaly at birth, postnatal growth retardation, body asymmetry, feeding difficulties/ low body mass index and dysmorphic craniofacial features. SRS is caused by DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1) on chromosome 11p15 or maternal uniparental disomy of chromosome 7 (mUPD7) in approximately 50% and 10%, respectivel...

hrp0082p2-d3-442 | Growth Hormone (2) | ESPE2014

Two-Year Results from Patro Children, a Multi-Centre, Non-Interventional Study of the Long-Term Efficacy and Safety of Omnitrope® in Children Requiring GH Treatment

Pfaffle Roland , Kanumakala Shankar , Hoybye Charlotte , Kristrom Berit , Schuck Ellen , Zabransky Markus , Battelino Tadej , Colle Michel

Background: PATRO children is an international, open, longitudinal, noninterventional study of the long-term safety and efficacy of Omnitrope®, a biosimilar recombinant human GH (rhGH).Objective and hypotheses: The primary objective is to assess the long-term safety of Omnitrope®, particularly the diabetogenic potential of GH in short children born small for gestational age, the risk of malignancies, and potential risks of...