ESPE Abstracts

Background & Purpose: Vitamin D is essential for bone and calcium metabolism, and a deficiency of this nutrient can lead to rickets and hypocalcemia. A 25 hydroxy-vitamin D (25OHD) value below 12 ng/mL (30 nmol/L) has been established by global consensus on the basis of several studies as constituting vitamin D deficiency. For example, (1) the incidence of nutritional rickets can increase at a 25OHD concentration of less than 12 ng/mL; (2) PTH increases wh...

Hypercalcemia and nephrocalcinosis (NC) are rare findings associated with congenital adrenal hyperplasia (CAH), whose pathogenetic mechanisms are still unclear. In this study we aimed to investigate the prevalence of NC in a cohort of Italian children affected with classical form of CAH, and to correlate its association with metabolic control of the disease.Subjects and Methods: This is a multicenter one year-perspective study involving ...

Aim: The pathophysiology of developing hypophosphatemia in children with diabetic ketoacidosis (DKA) has not been sufficiently elucidated. Fibroblast Growth Factor 23 (FGF23) is a hormone that causes phosphate excretion from the kidneys. The increase of FGF23 in children with DKA may explain the pathophysiology of hypophosphatemia in these children. The aim of our study was to investigate the effect of serum FGF23 on serum phosphorus level in children with DKA...

Objective: There have been very few studies, with contradictory results, on the serum trace elements in children and adolescents presenting with diabetic ketosis and diabetic ketoacidosis due to type-1 diabetes mellitus. The objective of this longitudinal controlled study was to determine serum trace element status including selenium (Se), zinc (Zn), copper (Cu), manganese (Mn), chrome (Cr), and cobalt (Co) in type-1 diabetic children and adolescents presenting with diabetic k...

Background: Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder due to inactivating mutations in the calcium sensing receptor (CASR). FHH is generally benign with asymptomatic hypercalcaemia, low urinary calcium excretion and normal or mildly elevated PTH.Objective and hypotheses: We report a novel mutation in CASR in a family with three generations affected with hypercalcaemia.Method: A 15 -month-old boy ...

Background: Sufficient iodine intake is required for the synthesis of thyroid hormone. Thyroid hormone is very important for normal growth and development, especially in newborn period. It is also well known that excess iodine intake may cause adverse effect in thyroid function.Objectives and hypotheses: This study was designed to find the iodine status of the newborn with normal thyroid function confirmed by newborn screening of thyroid function test (T...

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

Background and Aim: Achondroplasia is the most common skeletal dysplasia and is associated with serious complications such as foramen magnum stenosis (FMS). Current guidelines in Germany recommend polysomnography at 2-3 months and cranial imaging at 6-9 months of life in achondroplasia, whereas American Academy of Pediatrics recommends to evaluate every infant with achondroplasia for cranio-cervical junction risks via neurologic examination, polysomnography an...

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...