ESPE Abstracts

Background: 25-OH vitamin D levels in newborns depend directly on their mother’s status. In a previous study, 25-OH vitamin D levels were determined in cord blood in a cohort of women after winter months, showing deficient values in 94% of population (mean 25-OH vitamin D value 10.4±6.1 ng/ml). Correlation between low 25-OH vitamin D levels and low sun exposure, dark skin phototype and Indo-Pakistani ethnicity were observed.Objective and hypoth...

Background: There are limited data in paediatric population on the association between vitamin D deficiency/treatment and glucose/insulin metabolism.Objective and hypotheses: This study aimed to investigate the effect of vitamin D therapy on glucose homeostasis, insulin resistance and bone turnover, in children with vitamin D deficiency.Method: 22 children aged 3 months to 10 years (nine male) who were diagnosed with vitamin D defi...

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: Vitamin D has a key physiological role in many metabolic process and neuromuscular activities. The peak bone mass accrual occurred during adolescence, where about 51% of bone mass is gained during puberty and about 37% of the bone mineral density (BMD) of adults is reached. Vitamin D deficiency has long-term negative implications including increased risk of osteomalacia and osteoporosis. Severe hypovitaminosis D appears to be most common in the Mid...

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...

Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor essential for embryonic development of the parathyroid glands, auditory system, and kidneys. Here, we report...

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...

Hypocalcemia is a common metabolic problem and a recognized cause of seizures in neonates and infancy. Breastfed infants born to mothers who are vitamin D and or calcium deficient are at risk of developing vitamin D deficiency and hypocalcemia.Case report: We present two infants (two weeks old boy and a 9-month-old girl) with hypocalcemia caused by vitamin D deficiency admitted to our pediatric emergency department for seizures and tetan...