ESPE Abstracts

Background: Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder secondary to various mutations in growth-regulatory genes on chromosome 11p15.5. A well-established association exists between BWS and both benign and malignant tumours, most commonly Wilms’ tumour and hepatoblastoma. We present a less frequently described diagnosis of bilateral phaeochromocytoma in association with BWS.Case report: We report the case of a 14-year-old girl w...

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: 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...

Background: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

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: CrescNet is a large data base used to document children’s growth and weight development in more than 300 primary care practices and in eight specialized paediatric endocrinological centres in Germany.Aims and method: We investigated 3281 patients with IGF1 measurements during their consultations and subsequent checkups. We analysed 2269 children without an indication for rhGH treatment and 1012 who were subsequently treated with rhGH. A ...

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: In adults it has been shown, that GHmax values after provocation testing are negatively correlated to BMI. Preliminary studies in children have found a similar correlation. Consequently children with elevated BMI would be overdiagnosed with GHD. However, studies so far were too small to define this correlation exactly. This would be a condition to judge whether and to what extend adjustments of GH cut-off levels should be considered also in children with elevated B...

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...