hrp0097p1-418 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Comparison of efficacy and safety of oral cholecalciferol administration at 4-week intervals and daily administration to correct vitamin D deficiency in adolescents

Choi Jinjoo , Choe Yunsoo , Yang Seung

Objectives: Vitamin D deficiency is prevalent in pediatric population. Since low compliance may inhibit appropriate vitamin D supplementation in daily dosing regimen, intermittent high dose administration may be considered. We aimed to evaluate the efficacy and safety of monthly administration of oral cholecalciferol compared with daily dosing regimen in adolescents with vitamin D deficiency.Methods: This retrospective s...

hrp0086rfc11.1 | Thyroid | ESPE2016

Central Hypothyroidism and Biallelic Defect Near the D/ERY Motif of the TRHR Gene

Garcia Marta , de Buitrago Jesus Gonzalez , Pardo Leonardo , Hinkle Patricia M. , Moreno Jose C.

Background: The TRH receptor (TRHR) is a G-protein coupled receptor activated by hypothalamic TRH. In thyrotropes, TRH-TRHR signalling controls synthesis, secretion and bioactivity of TSH. Human TRHR defects are extremely rare, and only three cases are known with central hypothyroidism and short stature as variable presenting feature.Objective and hypotheses: Phenotypical characterization of a family with suspected central hypothyroidism and inv...

hrp0095p1-374 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Is testosterone supplementation required after induction of puberty in Duchenne muscular dystrophy? A follow-up study

Wood Claire , Mitchell Rod , Guglieri Michela , Straub Volker , Cheetham Tim

Introduction: Pharmacological doses of glucocorticoids (GC) reduce inflammation and preserve muscle function in boys with Duchenne muscular dystrophy (DMD) but cause almost universal pubertal delay. Long term consequences of GC on androgen status in young men who have received testosterone for pubertal induction remain unknown.Objective: To determine the longer-term outcome after a 2-year pubertal induction regimen using...

hrp0089fc2.6 | Bone, Growth Plate & Mineral Metabolism 1 | ESPE2018

Final Height is Negatively Related to Disease Burden in Mitochondrial Disease

Boal Rachel , Ng Yi Shiau , McFarland Robert , Cheetham Tim

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...

hrp0084fc1.5 | Adrenal | ESPE2015

Atypical Presentation of Six Patients with Mutations in the Side Chain Cleavage Enzyme CYP11A1

Chan Li , Huebner Angela , Spoudeas Helen , Cheetham Tim , Metherell Louise

Background: Mutations in the side chain cleavage enzyme, (CYP11A1) cause congenital adrenal insufficiency, with complete or partial 46XY sex reversal. The disorder manifests with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system.Objective and hypotheses: To obtain a genetic diagnosis in six patients with adrenal insufficiency of unknown aetiology. Patients 1 and 2 are sisters with ACTH resistance, having...

hrp0082p2-d2-300 | Bone (1) | ESPE2014

Vitamin D Levels in Children, Adolescents, and Young Adults with Juvenile onset Systemic Lupus Erythematosus: a Cross-sectional Study

Stagi Stefano , Capirchio Laura , Bertini Federico , Menchini Camilla , Scalini Perla , Seminara Salvatore , de Martino Maurizio , Falcini Fernanda

Background: Hypovitaminosis D is common in the general population. Although many studies on 25-hydroxyvitamin D (25(OH)D) are available on systemic lupus erythematosus (SLE), little data is present in juvenile onset SLE (JSLE) patients.Objective and hypotheses: This study aimed to assess serum 25(OH)D levels in JSLE patients and to identify risk factors for vitamin D deficiency in this population.Method: Forty-five consecutive Cauc...

hrp0084p3-659 | Bone | ESPE2015

Vitamin D Status in Romanian Children 0–18 Years – Should we be More Careful Regarding Supplementation?

Chirita-Emandi Adela , Puiu Maria

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

hrp0094p1-15 | Bone A | ESPE2021

Vitamin D status and guidelines in Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS)

Brighouse James Robert , Wan Mandy , Duncan Emma , Handforth Jennifer , Kenny Julia , Mughal M. Zulf , Riphagen Shelley , Theocharis Paraskevi , Cheung Moira S. ,

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...

hrp0092p3-103 | Fat, Metabolism and Obesity | ESPE2019

Relationship Between 25-Hydroxyvitamin D with Adiposity Assessed by Body Mass Index, Serum Glucose and Lipids Levels in Korea: A Cross-Sectional Analysis

Shim Kye Shik , Cho Ja Hyang , Jung Hae Woon

Purpose: Vitamin D deficiency is thought to be influenced by cardiovascular function and glucose homeostasis, however the potential influence of vitamin D status on insulin resistance, is not well understood. The aim is investigate the correlations between 25-hydroxyvitamin D[25(OH)D] with adiposity assessed by body mass index(BMI), fasting glucose and lipid levels on schoolchildren.Methods: From April 2015 to July 2018,...

hrp0095p2-90 | Diabetes and Insulin | ESPE2022

Contribution of 25 Hydroxy Vitamin D to the Risk of Development of Type 1 Diabetes in Children

Touzani Asmae , Cadario Francesco , Chabraoui Layachi , Bennani Naima , Imane Zineb , Amhager Samah , Balafrej Amina.

Objectives: To study the status of vitamin D (25-hydroxyvitamin D, active form) in diabetic an non-diabetic children in comparison with that of Moroccan children who have immigrated to Italy.Material and Methods: 25-hydroxyvitamin D levels were measured by chemiluminescence during the spring-summer season.Patients and Methods: Our cohort consisted of 25 subjects including 17 (9 Boy...