hrp0092p3-311 | Late Breaking Abstracts | ESPE2019

Serum Calcium, 25(OH) Vitamin D and Bone Alkaline Phosphatase in Children with Epilepsy Receiving Antiepileptic Drugs in University of Port Harcourt Teaching Hospital

Chukwumerije Chidinma , Yarhere Iroro , Alikor Edward

Objective: The aim of this study was to analyse bone mineral status in children with epilepsy, on antiepileptic drugs (AEDs) regimen, using serum calcium, 25 (OH) vitamin D and Bone alkaline phosphatase (BALP) and compare these with age and sex matched controls.Patients and Methods: This was a case - control study, conducted at University of Port Harcourt Teaching Hospital, from September 1 2018 to May 31 2019, with 200 ...

hrp0089p3-p048 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Comparison of Serum 25-Hydroxy Vitamin D Levels among Children & Adolescence with Attention Deficit Hyperactivity Disorder and Healthy Lranian People

Moayeri Heshmat

Background: Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent chronic behavioral disorder among children. No definite pathology is yet defined for this disorder and findings are in favor of multifactorial hypothesis.Aims: This study was performed with the aim of determining the association between vitamin D serum levels and ADHD among 6-14 year-old children referring to Imam Khomeini Hospital Complex during 2014–2015 in Tehran, I...

hrp0084p3-1024 | Growth | ESPE2015

Vitamin D Status in Pre-Pubertal Children with Isolated Idiopathic GH Deficiency: Effect of GH Therapy

Hamza Rasha , Hamed Amira , Abdelmohsen Rehab

Background: Some studies suggested a correlation between vitamin D (VD) and the GH-IGF1 but few studies, and with controversial results, have prospectively analysed the vitamin D status in children before and after GH treatment.Objective and hypothesis: To assess VD status in pre-pubertal children with idiopathic GH deficiency (GHD); and to evaluate effect of GHD and GH treatment on VD levels.Methods: 50 pre-pubertal children with ...

hrp0097p1-226 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Hereditary Vitamin D Resistant Rickets (HVDRR) Case Series: Phenotype, Genotype, Conventional Treatment and Cinacalcet Therapy

Ahmad Noman , Aziz Sundus , AlEsaye Nabil

Background: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...

hrp0092fc15.1 | Late Breaking Abstracts | ESPE2019

DLG2 Mutations in Patients with Delayed or Absent Puberty

Jee Youn Hee , Won Sehoon , Lui Julian C. , Jennings Melissa , Whalen Philip , Yue Shanna , Cheetham Tim , Boden Matthew G. , Radovick Sally , Quinton Richard , Leschek Ellen W. , Aguilera Greti , Yanovski Jack A. , Seminara Stephanie B. , Roche Katherine W. , Crowley William F. , Delaney Angela , Baron Jeffrey

NMDA (N-Methyl-D-aspartic acid) receptors have been shown to control the timing of sexual maturation in laboratory animals. Therefore, variants in genes impacting NMDA receptor signaling might be predicted to affect human puberty. We studied an extended family with extremely delayed puberty (menarche at 16.5 - 18 years for female family members and pubertal onset at 16 years for male family members). Exome sequencing revealed a rare missense variant (F900V) in DLG2, w...

hrp0092p3-71 | Diabetes and Insulin | ESPE2019

Vitamin D Status in Egyptian Children with Newly-Diagnosed Type 1 Diabetes and its Relation to Autoimmune Destruction of Pancreatic Beta Cells

Laimon Wafaa

Background: The relationship between 25 hydroxy cholecalciferol (25OHD) deficiency and autoimmune diseases including type I diabetes (T1D) is an ongoing area of research interest. Furthermore, vitamin D seems to affect β cells through calcium regulation, as insulin release is a calcium-dependent process. The aim of the study was to screen for (25OHD) deficiency in children with clinical onset of T1D and study the correlation between its serum levels an...

hrp0092p1-176 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Genotype and Phenotype Characterization of Turkish Patients with Vitamin D Dependent Rickets Type IA

Kaygusuz Sare Betul , Ata Pinar , Kirkgoz Tarik , Abali Zehra Yavas , Eltan Mehmet , Tosun Busra Gurpinar , Menevse Tuba Seven , Helvacioglu Didem , Guran Tulay , Arman Ahmet , Bereket Abdullah , Turan Serap

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...

hrp0086rfc2.3 | Bone & Mineral Metabolism | ESPE2016

Cord Vitamin D is Inversely Associated with Systolic and Diastolic Blood Pressure in 3-Year-Old Girls, but not in Boys

Larsen Sos Dragsbaek , Dalgard Christine , Christensen Mathilde Egelund , Andersen Louise Bjorkholt , Lykkedegn Sine , Christesen Henrik Thybo

Background: Vitamin D may have cardio-protective properties due to its biological actions. In children, observational studies linking actual vitamin D level and blood pressure have yielded conflicting results. Whether early life vitamin D exposure may elicit a programming effect on later systolic blood pressure (SBP) and diastolic blood pressure (DBP) needs further investigation.Objective and hypotheses: We investigated whether higher levels of cord 25-h...

hrp0084p3-647 | Bone | ESPE2015

Vitamin D Dependent Rickets Type 1A with Genetic Analysis in Three Chinese Children

Li Wenjing , Gong Chunxiu , Wei Liya

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

hrp0089p3-p051 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Clinical and Genetic Evaluations of Three Patients with Vitamin D Dependent Rickets Type 1A

Kulikova Kristina , Kolodkina Anna , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...