ESPE Abstracts

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...

Background: Transient or permanent hypoparathyroidism is one of the most well-known complications of total thyroidectomy and may lead to symptomatic hypocalcaemia. Treatment of post-thyroidectomy hypocalcaemia usually consists of postoperative calcium and/or vitamin D supplementation. In 2013 we implemented prophylactic pre-thyroidectomy calcitriol supplementation for all children undergoing total thyroidectomy at Amsterdam UMC. The objective of this study was...

Background: Graves’s disease (GD) is the most common cause of hyperthyroidism. Maximal 30% of pediatric GD patients achieve remission with anti-thyroid drugs. The majority of patients therefore require definitive treatment. Both thyroidectomy and radioactive iodine (RAI) are often used as definitive treatment for GD. However, data on efficacy, and short- and long-term side effects of RAI treatment for pediatric GD are relatively scarce.Methods: A ...

Background: Monitoring adherence to growth hormone (GH) treatment is important, because poor adherence can lead to suboptimal clinical outcomes. The easypod™ electromechanical injection device in combination with the web-based easypod™ connect platform electronically records and transmits accurate, objective records of the date, time and dose injected of patients receiving GH with growth disorders, allowing physicians to accurately monitor patients&#...

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...