ESPE Abstracts

Aim: Case report of an 18-month-old child with a background of vitamin D dependent rickets type 1(VDDR1)], due to a mutation of CYP27B1 (c.1319_1325dup and c.335C>T: compound heterozygote).Methods: Presentation of the case and the management of hypocalcemia as well as the complications of follow-up.Results: The patient presented at the A&Es of the 2nd Department of Pediatric...

Background: The Clock/Bmal1 transcription factor heterodimer regulates the circadian activities of many biological systems, including the hypothalamic-pituitary-adrenal (HPA) axis, by trans-activating or trans-repressing downstream target genes. 1,25 Dihydroxy Vitamin D (Vitamin D), a sterol hormone that is activated by exposure to sunlight, plays a fundamental role in maintaining calcium and phosphorus homeostasis. Recent evidence suggests that the nuclear vi...

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

Background: 28 days old baby girl presented to ER with seizure like activity for the last two weeks, breast feeding well and thriving. Past history full term normal delivery, no neonatal complications and no maternal history apart from iron deficiency anemia. Case presentation summary: Examination unremarkable, vitals and sugar were stable intermittent jerky movements of the limbs with no stiffness. Investigations: calcium 7.4 mg/dL, Magnesuim (Mg) 0.52 mg/dL, phosphate 8.3 mg...

Background: Hashimoto thyroiditis (HT) is the most common autoimmune disorder. There are few studies that analysed the relationship between HT and serum vitamin D.Objective and hypotheses: It has been suggested that vitamin D acts as an immunomodulator in autoimmune diseases such as HT Therefore we planned to investigate vitamin D status in euthyroid girls with HT.Method: The study group consisted of 66 euthyroid pubertal girls rec...

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

Background: The recent articles showed a kind of associations of the serum vitamin D levels and chronic diseases, for example, autoimmune diseases, vascular disorders, as well as malignancies. Also vitamin D deficiency impacts normal growth and maximal bone mineral accretion in puberty. Of pediatric population in Korea, the prevalence of cases of vitamin D deficiency and precocious puberty were continuously increasing nowadays.Objective and hypotheses: W...

Background: According to the latest studies vitamin D has an effect on the production and/or secretion of IGF1 in the liver, but the exact mechanism regulating these relationships has not been thoroughly explained.Objective and hypotheses: Evaluation of the relationship between 25(OH)D and IGF1 levels in the serum of children with GH deficiency (GHD).Method: The study group consisted of 76 GH deficient children qualified for GH the...

Introduction: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

Background: Despite a shining sun all through the year, vitamin D deficiency is still prevalent in Egyptian children which suggests a relative resistance to vitamin D in Egyptian population.Aim: To assess 25(OH)D status in healthy pre-pubertal Egyptian children and to relate its levels to anthropometric parameters in these children.Methods: Sixty healthy children aged between 3 and 10 years coming to the Outpatient clinic, Children...