ESPE Abstracts

Background: Achondroplasia (ACH), the most common short-limbed skeletal dysplasia, is characterized by impaired endochondral ossification resulting from gain-of-function pathogenic variants in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone growth. People with ACH are at risk for several significant co-morbidities, including brainstem compression due to foramen magnum stenosis, sleep-disordered breathing, chronic...

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

Background: CREB-regulated transcription coactivator 3 (CRTC3) is found in adipocytes where it may promote obesity through disruption of catecholamine signaling. CRTC3 knockout mice are resistant to diet-induced obesity.Objective and Hypotheses: The goals of the present study were i) to assess whether CRTC3 is a soluble protein secreted by adipose tissue ii) to explore whether CRTC3 is detectable and quantifiable in the circulation, and iii) to ...

Background: The innate immune system is one of the first lines of host defense against invading pathogens. Pro-inflammatory α-defensins (mainly DEFA1–3) and anti-inflammatory bacterial/permeability-increasing protein (BPI) are antimicrobial peptides predominantly produced by neutrophils which have been recently related to obesity, type 2 diabetes and cardiovascular risk.Objective and hypotheses: The aim of our study was to test whether α-d...

Introduction: There is still controversy about the levels of bone turnover markers at type 1 diabetes (T1D) onset and their dynamics at follow-up. Bonfanti et al. did not find any differences at onset, while few months afterwards beta cross laps level was significantly lower. Pater et al. found lower levels of osteocalcin and Log beta cross laps at onset which normalized after 3 and 12 months. Possible mechanisms are metabolic acidosis, decre...

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

Objective: To report on a pediatric case series of massive insulin overdose, its altered pharmacokinetics and the patients favorable outcome.Cases and results: Case 1: 300 IU of insulin aspart were subcutaneously injected into a non-diabetic eight-year-old boy within an extended suicide. After 16 hours he was found unconscious with generalized convulsions. The initial blood glucose concentration was below detection limit. It normalized o...

Prior to menopause, it is known that women have a lower risk of cardiovascular disease (CVD) and coronary heart disease compared to age-matched men; it is reported that women have around half the CVD risk and almost a 10-year delay in first myocardial infarction event compared to men. Sex differences in serum lipids could contribute to CVD risk through driving atherosclerosis, the buildup of lipids in the sub-endothelial intimal layer of medium-sized to large arteries. We hypo...

Introduction: With the increasing prevalence of obesity, prediabetes and type 2 diabetes (T2D) in youth are on the rise. Prevention is paramount for these multifactorial diseases. Dietary interventions targeting a reduction of dietary glycemic index (GI) and glycemic load (GL) are potential strategies for improving insulin resistance. However, the association between GI and GL and T2D risk in children remains uncertain.Objectives...

Background: The survival of an organism relies on its ability to promptly, effectively and reproducibly communicate with brain networks that control food intake and energy homeostasis. To achieve this, circulating factors of hunger and satiety reflecting nutrient availability must cross the blood-brain barrier (BBB) to reach effectors neurons.Objective and hypotheses: Here I will discuss the key role played in this process by a peculiar type of glial cel...