ESPE Abstracts

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®...

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...

Background: The neuroendocrine mechanisms of the initiation of puberty are still incompletely deciphered. Accumulating data indicate a main role of the glutamate system in regulating hypothalamic GnRH. However, the underlying neurobiological mechanisms are yet poorly investigated. Mice lacking metabotropic mGlu5 receptors (mGluR5) show sever unexplained infertility.Objective and hypotheses: We aimed in the present study to analyze the specific role of mG...

Background: The 6-min walk test (6MWT) is a simple, accurate and safe method to measure functional exercise capacity. The 6MWT is increasingly used in children to predict morbidity and mortality from cardiopulmonary disease, to assess functional capacity and measure disease progression in chronic childhood conditions such as muscular dystrophy.Objective and hypotheses: To provide smooth reference curves for the 6-min walk distance (6MWD) in healthy child...

Background: Primary IGF1 deficiency (PIGFD) is a rare disease defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. Whereas some members of the GH–IGF axis have been shown to be implicated in the severe syndromic forms of PIGFD due to GH insensitivity, genetic causes of less severely affected patients are mostly unknown.Objective and hypotheses: The aim of the present study was to systematically investigate fr...

Introduction: Increlex® was approved as an orphan drug for treatment of growth failure in children and adolescents with SPIGFD in 2007 with relatively little data available. Therefore sequential measurements of serum IGFI, glucose, insulin and potassium were performed in SPIGFD patients treated with Increlex® to evaluate their significance in safety and efficacy.Design: Blood samples were taken after meals before and 30, 6...

Background: 11β-hydroxylase deficiency (HD) represents a rare cause of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency and excess of mineralcorticoids and androgens. The CYP11B1 gene on chromosome 8q22 encodes the 11β-hydroxylase.Objective: To report clinical, biochemical and molecular features of patients with 11β-HD.Results: Four male patients of Turkish descent with 11β-HD incl...

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...

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

Background: Primary IGF1 deficiency (PIGFD) is a rare condition defined by low IGF1 levels, GH sufficiency and absence of secondary causes of growth failure. PIGFD is an approved indication for treatment with recombinant IGF1 (rIGF1). Its genetic causes remain largely unknown.Objective and hypotheses: To elucidate genetic causes of PIGFD.Method: Clinical phenotyping followed by trio-based whole-exome sequencing (WES) in 11 complete...