ESPE Abstracts

Background: Acrodysostosis Type 2 (ACRDYS2) is a rare autosomal dominant skeletal dysplasia associated with intellectual disability and gain-of-function mutations in the phosphodiesterase type 4D gene (PDE4D) which, in turn, leads to a paucity of intracellular cAMP due to increased PDE4D activity. This increased PDE4 activity may be due to a greater existence of a mutant monomeric form of PDE4D. To date, the clinical use of PDE4 inhibitors in ACRDYS2 has been ...

The obesity pandemic is likely multifactorial, comprised primarily of reduced caloric expenditure and increased caloric intake secondary to dietary changes, coupled with host genetic predisposition and other environmental exposures. The role of the host microbiome in metabolism, energy expenditure, and metabolic disorders, including obesity, has more recently come under scrutiny as well. For example, several perturbations in the host microbiome have been associated with obesit...

The medical treatment of osteoporosis in children at present mainly relies on anti-resorptive drugs, in particular bisphosphonates. However, not all forms of pediatric osteoporosis are characterized by increased bone resorption. In disorders with low bone turnover and decreased bone formation activity, such as osteoporosis due to neuromuscular disorders and glucocorticoid exposure, use of bone anabolic approaches appears to be a more logical option than antiresorptive drugs, w...

Multiple studies have examined the relationship between BMI and timing of the onset of puberty. The more salient measure of this relationship may be adiposity, which can be represented by fat mass, BMI z-score, or waist-to-height ratio. The relationship of greater BMI or adiposity to earlier pubertal onset in girls is generally consistent, and several mechanisms have been proposed. These potential mechanisms include impact of adiposity on leptin concentrations, altere...

Ectopic calcifications rarely manifest in the pediatric population. However, especially when present in arteries calcifications are often associated with severe complications. Ectopic calcification can be viewed as a phenomenon arising in a state of imbalance between systemic activators and inhibitors of calcification. Within recent years, research has led to the discovery of intricate networks regulating the systemic phosphate/pyrophosphate ratio, which seems to play an impor...

Background: Subcutaneous fat necrosis of the Newborn (SCFN) is a rare disease occurring in the first days of life. Characteristically the infants show hard nodules in subcutaneous tissue, purple or erythematous in color and appear on the upper back, cheeks, buttocks and limbs. In most cases SCFN is a self-limiting disease, as the nodules disappear in up to 6 months. A severe complication associated with SCFN is hypercalcemia. Pathophysiological mechanisms caus...

Background: There is no knowledge of the energy metabolism in the presence of X chromosome aneuploidy or structural aberrations. Recently, an abnormal muscle metabolism was observed in girls with Turner syndrome (TS).Objective and Hypotheses: Resting energy expenditure was prospectively estimated by indirect spirometry in 92 short prepubertal girls at the start of GH therapy.Method: The diagnoses were TS (n=23), GH deficie...

Background: Long standing GH deficiency (GHD) causes loss of muscle mass. DXA enables the measurement of LBMDXA but is accompanied with a potentially harmful X-ray exposition. BIA measures the electric resistance of the body which correlates with LBM. A comparison of both methods in children with GHD has not been performed yet.Aim: Calculation of a regression formula for LBM using resistance and anthropometry based on LBMDXA in chil...

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...