hrp0084p3-681 | Bone | ESPE2015

A Case of Vitamin D Deficient Rickets Showing Resistance to the Treatment of Active Vitamin D: Severe Calcium Deficiency Cause Vitamin D Resistance

Tanaka Hiroyuki , Hasegawa Kosei , Takatsuka Moe , Okahara Chika , Noguchi Yoshie , Takata Tsutomu , Ogura Kazuo

Case presentation: A 2-year-boy was referred tour hospital for the rickets. He was the first son between non-consanguineous parents and fed with breast milk. But after weaning, he was avoided from taking egg, dairy products including cow’s milk. He was also suffered from developmental delay and had strong food preference. He could take only two kinds of foods, steamed rice and soy bean product, tofu. X-ray findings showed typical rachitic change on long bone metaphysis. L...

hrp0092p3-295 | Late Breaking Abstracts | ESPE2019

A Novel Pathogenic Mutation of Vitamin-D-Dependent Rickets

Norberto Pin Jacopo , Cossettini Micol , Fabris Francesco , Martelossi Stefano

Background: Vitamin-D-dependent rickets 1A (VDDR-1A) is a extremely rare, autosomic recessive genetic form of rickets caused by a defect in vitamin D 1α-hydroxylase enzyme which leads to low levels of 1,25-(OH) vitamin D.Herein, we report two Moroccan sisters R.E. and N.E. (respectively 3 and 15 months old), born from consanguineous parents, who presented with psychomotor retardation and failure to thrive.<str...

hrp0092p2-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A 10-year-old Girl with Primary Hypoparathyroidism and Systemic Lupus Erythematosus (SLE)

Borysewicz-Sanczyk Hanna , Sawicka Beata , Michalak Justyna , Wójtowicz Jerzy , Dobrenko Elzbieta , Konstantynowicz Jerzy , Kemp Elizabeth , Thakker Rajesh , Allgrove Jeremy , Black Sarah , Chen Shu , Furmaniak Jadwiga , Rees Smith Bernard , Bossowski Artur

Introduction: Parathyroid Hormone (PTH) is one of the principal regulatory hormones for calcium and phosphate homeostasis. Reduced PTH concentration in hypoparathyroidism is characterised by hypocalcaemia and hyperphosphataemia.Case Presentation: We report a ten-year-old girl who was admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology due to repeated seizures, hypoalcaemia with suspected...

hrp0084p3-838 | Fat | ESPE2015

Bioavailable Vitamin D in Obese Children: The Role of Insulin Resistance

Grandone Anna , Del Giudice Emanuele Miraglia , Cirillo Grazia , Di Sessa Anna , Umano Giuseppina , Marzuillo Pierluigi , Capristo Carlo , Perrone Laura

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

hrp0094p2-95 | Bone, growth plate and mineral metabolism | ESPE2021

Effect of cholecalciferol treatment on serum FGF-23, vitamin D-binding globulin and α-klotho levels in children with vitamin D deficiency

Tosun Ilker , Orbak Zerrin , Doneray Hakan , Ozturk Nurinnisa ,

Introduction and Aim: FGF-23 is a hormone that works by inhibiting phosphorus reabsorption in kidneys, and systematic regulation of phosphate homeostasis by FGF23 depends on the activity of the membrane protein Klotho. It affects the active vitamin level according to the bioactive free vitamin hypothesis, which binds DVBP to vitamin D and prolongs its half-life. In this study, it was aimed to investigate 1.25 (OH) Vitamin D, Vitamin D Binding Protein, FGF-23 a...

hrp0084p3-884 | Fat | ESPE2015

Vitamin D Status in Iranian Obese and Non-obese Children

Sayarifard Fatemeh , Motlaghzadeh Yasaman , Sayarifard Azadeh , Allahverdi Bahar

Background: Vitamin D deficiency is now a critical issue due to its high prevalence and side effects.Objective and hypotheses:: We assessed the serum vitamin D status of obese and non-obese children and comparing their therapeutic response to identical oral vitamin D consumption in Iran.Method: This study was performed in children aged 2–14 years at Children Medical Center of Tehran in Iran. At first, the serum 25-hydroxy vita...

hrp0086p2-p531 | Fat Metabolism and Obesity P2 | ESPE2016

Associations of Serum 25-Hydroxyvitamin D and Components of the Metabolic Syndrome in an Egyptian Cohort

Ibrahim Amany , Meabed Mohamed , El Mosallamy Nevin , Abo El Hassan Gehad

Background: Vitamin D deficiency may be associated with increased risk of metabolic syndrome.Objective and hypotheses: We aimed to assess the relation between 25-hydroxyvitamin D (25(OH) D) with the different metabolic syndrome components in overweight and obese subjects.Method: Ninety eight subjects (≥85th percentile for age and sex) recruited from the Diabetes, Endocrine & Metabolic Paediatrics Unit (DEMPU), Cairo Unive...

hrp0084p3-662 | Bone | ESPE2015

Seasonal Differences in Plasma 25-OH Vitamin D Concentrations in Cord Blood

Gomez Sandra Ortigosa , Varo Cristina Manzano , Algar Oscar Garcia , Sierra Antonio Mur , Costa Roser Ferrer , Lezcano Antonio Carrascosa , Fernandez Diego Yeste

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...

hrp0082p3-d3-726 | Diabetes (2) | ESPE2014

Effect of Vitamin D Treatment on Glucose and Insulin Metabolism, and Bone Turnover in Children with Symptomatic Vitamin D Deficiency

El-fakhri Nagla , McMillan Martin , McNeilly Jane , Ahmed S F , McDevitt Helen

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...

hrp0095p1-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Vitamin D may facilitate Clock/Bmal1-DNA interactions in a Vitamin D receptor-independent fashion

Nicolaides Nicolas , Papakonstantinou Eleni , Vlachakis Dimitrios , Chrousos George

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...