ESPE Abstracts

Background: The hypothalamic leptin–melanocortin signalling pathway is a critical regulator of human appetite and weight regulation. Monogenetic defects in the POMC gene, the MSH ligand generating PC1 gene and the MSH receptor gene MC4R lead to severe early onset and leptin-resistant obesity. In PWS, where the function of genes such as MAGEL2 are impaired, the Magel2-/- mouse model revealed decreased POMC neuronal functioning as one c...

Background: Prader–Willi syndrome (PWS) is characterized by a switch from failure to thrive to excessive weight gain and hyperphagia with impaired satiety in early childhood. An elevated, more unfavorable ratio between acylated:unacylated ghrelin (AG:UAG) may be involved in the underlying mechanisms of this switch.Objective and hypotheses: To assess the evolution of the appetite regulating hormones AG, UAG, and the AG:UAG ratio in infants with PWS a...

Background: There are limited data on differences in height, bone mineral density (BMD) and pubertal delay between homozygous and heterozygous carriers of IGFALS defects.Objective and hypotheses: To describe clinical and laboratory features and BMD of homozygous and heterozygous carriers of a novel IGFALS mutation in a large Kurdish family.Method: Index cases were two first degree cousins presenting with short stature, low IGF1, ve...

Background: In salt wasting congenital adrenal hyperplasia (SW-CAH) patients suffer from a deficiency of both cortisol and aldosterone and develop life-threatening salt wasting crises neonatally. Treatment consists of glucocorticoids, mineralocorticoids and salt supplementation. We present a case with a two years delayed diagnosis of SW-CAH.Case presentation: The patient was admitted to the hospital at the age of two weeks because of poor feeding, irrita...

Background: Type 1 diabetes may have an influence on concentration, attention and behaviour. These effects are relevant, as they may affect school performance and later career options for paediatric diabetes patients.Objective and hypotheses: This study examined attention, concentration and behavioural difficulties in diabetic children aged 5–13 years and their association with hypoglycaemic episodes and HbA1c.Method: 48 child...

Background: Short stature homeobox (SHOX)-related haploinsufficiency is associated with a wide clinical variability, all characterized by growth failure with or without mesomelia and/or Madelung deformity. In patients, the effect of GH therapy on final height is comparable to the effect that can be obtained in Turner syndrome. The majority of the patients with SHOX-related haploinsufficiency disorder have deletions of varying sizes in SHOX. Point mutations in SHOX account for ...

Background: In mammals, maternal glucocorticoids are transmitted through breast milk, particularly under stressful circumstances. In humans, it is unclear whether milk cortisol levels are dependent on stressful perinatal circumstances, such as preterm birth.Objective and hypotheses: Our aim was to compare cortisol concentrations in breast milk of mothers of very preterm infants (GA <32 weeks) to breast milk cortisol concentrations of mothers of full-...

Background: Peak stimulated growth hormone (GH) levels are known to decrease with increasing BMI, possibly leading to overdiagnosis of GH deficiency (GHD) in children with overweight and obesity. However, current guidelines do not provide guidance how to interpret peak GH values of these children. The aim of this systematic review and meta-analysis was to study the effect of BMI standard deviation score (SDS) on stimulated peak GH values in children, to identi...

Background: For early identification of patients requiring adherence support, objective, real-time adherence data are needed. The easypod™ electromechanical injection device, in combination with the easypod™ connect ecosystem, electronically records and transmits, in real time, accurate records of the date, time and dose injected for patients receiving recombinant human growth hormone (r-hGH) to treat growth disorders. Healthcare professionals can us...

Objective: Congenital Adrenal Hyperplasia (CAH) requires life-long replacement of cortisol. However, this long-term GC-treatment could change the developmental trajectory of the brain and predispose patients to problems with cognition and mood regulation. Previously, we have found impairments in working memory in patients with CAH, as well as alterations in brain structure in regions of the central executive network (CEN). These changes could be associated wit...