ESPE Abstracts

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

Background: It has been reported that short-term increases of the bone formation markers intact amino-terminal propeptide of type I procollagen (PINP), bone-specific alkaline phosphatase (BALP) and osteocalcin display different temporal patterns. In adults, the biphasic model of GH action in bone remodelling shows that GH treatment results initially in an increased bone resorption with a concomitant bone loss, which later on is followed by increased bone formation. In children...

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...

Background/aim: Hyperparathyroidism (HPHT) is a common feature in patients with X-linked hypophosphatemia (XLH) especially when treated with vitamin D analogues and phosphate supplements. Although the exact mechanism is not clear, it is assumed that phosphate supplements taken chronically stimulate parathyroid hormone (PTH) secretion. We prospectively assessed the effect of a novel pathogenetic treatment anti-FGF23 (burosumab) on PTH levels in children with XL...

Introduction: Leptin, an adipokine secreted mainly by adipose tissue, is a regulator of energy balance acting through central mechanisms on the hypothalamus. However, leptin has many functions regulating e.g., immune system and reproduction. Leptin exerts its biological effects through its receptor, the expression of which has been demonstrated in several tissues. There are several leptin receptor isoforms, but activation of only one of them, the long form, re...

Background: Growth hormone deficiency (GHD) is a disorder affecting children's linear growth and leading to short stature without initiation of treatment with growth hormone (GH). Administration of GH has been shown to be safe and effective to increase children's final height in GHD. It is important to start the treatment as early as the GHD is diagnosed. The objective of the current study is to evaluate the growth velocity and height standard deviat...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...