ESPE Abstracts

Background: Vitamin D dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-Hydroxyvitamin-D3 1-α-hydroxylase gene(CYP27B1).Objective and hypotheses: To evaluate clinical characteristics and molecular genetic analysis of the pediatric patients with VDDR1 who were being followed at Diyarbakir Children’s State Hospital, Turkey.Method: VDDR1 diagnosis was consid...

Introduction: Obesity and vitamin D deficiency are global public health problems. There is evidence of a reciprocal link between vitamin D deficiency and obesity. Both conditions are risk factors for the development of chronic diseases, primarily insulin resistance and diabetes mellitus type 2, and contribute to a decrease in physical fitness (PF). The aim of this study was to determine the effectiveness of vitamin D supplementation on PF of obese children dur...

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

Background: It is not an uncommon situation that newborns have normal serum Ca, P, Mg, ALP, and PTH levels despite low vitamin D. Serum vitamin D binding protein (VDBG) may play a role for this situation. However, there is no any study investigated the relationship between serum vitamin D and VDBP in postnatal period.Objective and hypotheses: The aim of this study is to examine the relationship between serum vitamin D level and VDBP in neonates who have ...

Background: Hypercalcaemia is caused by many different conditions. Vitamin D intoxication with severe hypercalcemia is rare in the neonatal and infancy period. Here we described a 4-month-old male with severe hypercalcemia secondary to taking oral 600 000 units of vitamin D. He was diagnosed vitamin D 24-hydroxylase gene (CYP24A1) mutation after evaluation.Case presentatıon: He was admitted to our hospital with high serum calcium level (23 mg/dl). S...

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Objective: Determination of changes in metabolic status and vitamin D concentrations in obese children.Methods: We examined 210 children in the University Hospital (Minsk) from 2021 to 2022 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of vitamin D, OPG, insulin were determined. All children were divided into 2 groups: group 1 children with morbid obesity (MO) ...

Objective: determination of changes in metabolic status and vitamin D concentrations in obese children.Methods: We examined 221 children in the University Hospital (Minsk) from 2019 to 2021 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of vitamin D, insulin were determined. All children were divided into 2 groups: group 1 children with morbid obesity (MO) - 159...

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...