ESPE Abstracts

Background: It has been suggested that Vitamin A intake may affect height velocity in children with GH deficiency (GHD) who were under GH replacement (GHR).Objective and hypotheses: Aim of the study was to evaluate vitamin A levels in GHD children under GHR.Method: Vitamin A levels were measured in 38 children (23 males, mean age 10.8 (S.D. 3.3) years) with GHD, after mean duration of GH treatment of 3.1 (S.D....

The coronavirus disease (COVID-19) pandemic brought with it a state of alarm as of March 14, 2020, which implied a restriction on the mobility of the general population and home confinement. One of the main concerns raised by isolation was the substantial reduction in energy expenditure due to children spending more time sitting or participating in activities that involve very low rates of energy expenditure, such as watching television, managing the different networks social ...

Objective: Vitamin deficient (VDD) rickets can manifest with skeletal (hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase and defective bone mineralization) and extra-skeletal findings. There are certain number of case reports and limited number of small scale studies reporting dilated cardiomyopathy due to VDD rickets.The aim of the present study is to evaluate the clinical, biochemical and echocardiographic features of...

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

Background: Parathyroid Hormone (PTH), a key regulator of calcium and phosphorus homeostasis through its effect on bone, kidney, and intestine. The serum concentration of PTH is derived both from the release of PTH stored in secretory granules and from de novo synthesis of PTH in response to alterations in the serum levels of calcium, phosphorus, and vitamin D. Magnesium has a potent role in secretion of PTH, while alkaline phosphatase appears to be important ...

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). The syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, often alopecia and severe hypocalcemia.Objectives: To study the effectiveness of our designed protocol of continuous high dose intracaval calcium infusion for the tre...

Pediatric diabetes management extends beyond glycemic control. A gap between guidelines and actual care exists. Standardized performance measures represent a key strategy to improve quality of care. In Italy, a non-profit initiative of continuous monitoring and quality improvement of diabetes care is in place since 2018, promoted by the ISPEDCARD association and involving the Society for Pediatric Endocrinology and diabetology (ISPED). Aim of the present work is to report the ...

Introduction: Thyroid hormones (THs) play a crucial role in growth, brain development and function and metabolic homeostasis. The sensitivity to TH indices seems to be associated with metabolic syndrome (MS), prediabetes and diabetes in adults. We evaluated the sensitivity to TH indices in a pediatric population with neuromotor disability in relationship with the MS presence, using a multivariate analysis (MVA).Patients and Metho...

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and Addison’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...