ESPE Abstracts

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...

Background: The Easypod Connect Observational Study (ECOS) observational study follows children with GHD, SGA and Turner syndrome receiving r-hGH therapy for up to 5 years, with interim analyses each year. The easypod electromechanical auto-injector device enables accurate, real-world digital records of patients’ adherence to rhGH to be collected for evaluation.Objective and hypotheses: The primary objective of ECOS is to evaluate the level of adher...

The leptin melanocortin signaling pathway plays a pivotal role in body weight regulation within the hypothalamus. Gene mutations within this cascade are leading to early onset obesity and severe hyperphagia in rodents and humans. For the affected patients it is extremely difficult to stabilize body weight based on the persisting hunger feeling. Traditional treatment options (increased exercise, reduced caloric intake) are not effective in most cases. Therefore, there is a need...

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Background: Milk supplementation increases serum IGF-I concentrations in healthy children and the effect is attributed to elevation of insulin and/or direct effects of milk proteins. Low serum IGF-I concentrations are common among children with short stature and may be associated with GH deficiency but poor nutrition/malabsorption may also contribute. Effects of nutritional supplementation on serum IGF-I is poorly studied in short children.Aim: To invest...

Background: Delaying puberty with GnRHa in an attempt to improve final height in GH treated children is relatively common in clinical practice. Such treatment is only supported by one retrospective study in which pubertal start was relatively early.Objective and hypotheses: To retrospectively assess adult height in children with short stature treated with GH and receiving or not receiving GnRHa. We hypothesized that delaying puberty with GnRHa improves a...

Background: Disorders of sex development (DSD) can be caused by many hormonal and genetic defects. One rare condition is a mutation of the SRY-gene disturbing normal sex differentiation. Identical twins with this disorder of varying degree are presented to learn how difficult social sex assignment may be in such a case.Case presentation: Identical 46, XY twins were born in 1985 from non consanguineous, healthy parents of German origin. T...

Background: Herediter hypomagnesemia with secondary hypocalcemia (HSH) is a rare autosomal recessive disease caused by mutations in the transient receptor potential melastatin 6 (TRPM6) gene. Affected individulals present at early infancy with severe hypocalcemia and hypomagnesemia which leads to tetany and seizures.Objective and hypotheses: In this report, we want to present the clinical features, treatment regimen, follow-up of a patient with a novel h...

Introduction: Primary empty sella syndrome (ES) is rare in children. Reports relating it with various endocrine manifestations have been published. Asymptomatic cases have also been reported, this questions the existence of causal relationship.Objective: To analyze causal relationship between primary ES and endocrine manifestations in 15 pediatric cases seen in our clinics, and suggest patients follow-up.Population and methods: Ret...