ESPE Abstracts

X-linked hypophosphatemia (XLH) is the most common genetic disorder of phosphate homeostasis. It is caused by inactivating mutations in the PHEX gene, which encodes a phosphate regulating endopeptidase predominantly expressed in osteoblasts, osteocytes, and odontoblasts.In children there is a broad phenotypic spectrum of XLH ranging from isolated hypophosphatemia without clinical signs up to severe symptoms, such as rickets, extreme lower limb d...

Background: Receptor for advanced glycation end-products (RAGE) is a multiligand receptor up-regulated at sites of inflammation, especially in tissues with accelerated advanced glycation end-products formation. It is additionally stimulated by RAGE ligands S100A12 and HMGB1 released from recruited immune cells thus perpetuating the inflammatory process with a potential role in the development of type 1 diabetes as well as in development in diabetes complicatio...

Background: Early gain in fat mass (FM) might be influenced by type of feeding. Excessive gain in FM during the first three months of life is associated with an increased risk for adiposity and cardiovascular diseases. This three-month period is also known as the critical window for adiposity programming.Aims: To investigate differences in body composition between exclusively breastfed (BF) and formula fed (FF) infants from birth to 24 months.<p clas...

Context: Infants and toddlers with Prader-Willi Syndrome (PWS) have a mental and motor developmental delay. Short-term data suggest a positive effect of growth hormone (GH) on mental and motor development in infants and children with PWS. There are, however, no longer-term results about the effects of GH treatment on mental and motor development.Objective: To investigate the longer-term effects of GH on psychomotor development in infants and toddlers wit...

Background: Small birth size followed by accelerated weight gain in early life is associated with an increased risk for age-associated diseases, such as cardiovascular disease (CVD) in later life. The underlying causes for this are largely unknown. Leukocyte telomere length (LTL) is a marker of biological age and short LTL is associated with increased CVD-risk. Subjects born small for gestational age (SGA) who remain short are treated with growth hormone (GH) to improve adult ...

Background: Growth hormone treatment (GH) in children with PWS results in an improvement in height velocity, body composition and mental and motor development. Discontinuation of GH after attainment of adult height (AH) leads to a decrease in lean body mass and an increase in body fat percentage, which results in an increased risk of impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DM2). Studies in adults with PWS suggest positive effects of GH, but GH is known t...

Background: Boys with PWS often have unilateral or bilateral cryptorchidism. Prospective studies on the treatment of cryptorchidism in boys with PWS are lacking and there is no treatment consensus among pediatricians and urologists.Objective and hypotheses: We hypothesized that hCG treatment would lead to a scrotal position of the testes in infants with PWS and cryptorchidism. We therefore evaluated the effects of hCG treatment on testis position. Additi...

Background: Subjects born preterm have an increased risk for ageing-associated diseases such as cardiovascular disease (CVD) in later life but the underlying cause is largely unknown. Telomere length (TL) is a usable index for ageing, with shorter TL indicating older biological age. Furthermore, short TL is associated with CVD.Objective and hypotheses: To investigate TL in subjects born preterm compared to term and to assess if TL is associated with risk...

Background and Objectives: Childhood obesity is a global public health threat, with an alarming rise in incidence. Obesity at young age has short-term consequences, as well as long-term morbidity. It is, therefore, important to determine body composition longitudinal throughout infancy and childhood to prevent excess adiposity. Multiple methods are used to determine body composition in infants and young children, but none are described as suitable for longitud...

Introduction: Monitoring steroid hormone levels of children with endocrine disorders, such as congenital adrenal hyperplasia (CAH) and disorders of sex development (DSD), can be challenging. Dried blood spot (DBS) sampling can be helpful for these patients. DBS sampling is less invasive, easier to sample, and simpler to transport and store compared to venous blood sampling. Additionally, DBS sampling can be done at home at any time of the day, thus improving p...