hrp0084p3-652 | Bone | ESPE2015

Endocrine Function, Vitamin D and Bone Mass Status in β-Thalassemia Major

Altincik Ayca , Akin Mehmet

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

hrp0084p3-669 | Bone | ESPE2015

Comparison of the Levels of Vitamin D in Children in Northern Spain (Domestic or Foreign)

Sarasua-Miranda Ainhoa , Diez-Lopez Ignacio , Lorente-Blazquez Isabel

Background: In recent years, vitamin D is attracting increasing interest due to the resurgence of vitamin D deficiency and rickets in developed countries, identifying their extraesqueletics actions and greater understanding of its many benefits. Vitamin D deficiency in children prevalence of vitamin D deficiency in certain regions described up to 80%, especially at high latitudes (above 37) and some breeds.Objective and hypotheses: To study the degree of...

hrp0097p2-272 | Late Breaking | ESPE2023

Is screening for vitamin D deficiency reasonable or should we supplement at risk patients?

Oliveira Mariana , Cláudia Moura Ana , Miguel Cláudia , Pinto Mariana , Barros Marta , Almeida Nuno , Adriana Rangel Maria

Introduction: No consensus on vitamin D (VitD) deficiency screening in children and adolescents exists.Aim: To evaluate a sample of patients in whom VitD dosing was performed and determine the rationale for this assessment.Methods: Retrospective, longitudinal study of pediatric patients, from a Portuguese tertiary hospital, who had at least two 25(OH)D level blood sampling between ...

hrp0097p2-48 | GH and IGFs | ESPE2023

The Value of using IGF1/Growth Hormone Peak Ratio in Children with Idiopathic Short Stature

Soliman Ashraf , Alyafei Fawzia , Elsideeq Sohair , Hamed Noor , Ahmed Shayma , Alaaraj Nada

Introduction: Stimulated GH peak values have been shown to correlate well with nocturnal GH peak values and with nocturnal mean GH values. In addition, the expression level of serum IGF-1 in ISS has been shown to be significantly lower than that in normal children despite their normal GH peak response to provocation.Objectives: To investigate the value of using the IGF1/GH peak ratio in the anthropometric assessment of c...

hrp0092p3-226 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Rare Cause of 46,XY Sexual Development Disorder: 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency

Manyas Hayrullah , Eroğlu Filibeli Berna , Ayranci İlkay , Saka Güvenç Merve , Nuri Dündar Bumin , Çatli Gönül

Introduction: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3) enzyme deficiency is a rare cause of 46 XY disorder of sexual development. It is inherited autosomal recessively and clinical phenotype is highly heterogeneous and depends on the mutation severity. Conversion of androstenedione to testosterone deteriorates due to lack of enzyme.Objective: In this case report, we present a case who was born en...

hrp0097p2-170 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Vitamin D deficiency in pediatric population and influence on PTH levels

Diez-Lopez Ignacio , Sarasua Miranda Ainhoa , Maeso Mendez Sandra

Transversal study. Patients from 0 to 17 years of age who had undergone an analytical determination of 25OHD during the year 2021 in our hospital were collected. The following were contrasted: 25OHD, PTH, total calcium, age, sex, reason for requesting analysis, time of year and country of origin. 25OHD ranges: normal >30 ng/mL, suboptimal 20-30 ng/mL and deficit <20 ng/mL; and normal PTH: 9-60 pg/mL.Results: 1. Prevalence of vitami...

hrp0097p1-507 | Growth and Syndromes | ESPE2023

Identification and characterisation of novel HMGA2 variants expand the clinical spectrum of Silver-Russell syndrome

Vickram Maharaj Avinaash , Cottrell Emily , Thanasupawat Thatchawan , D. Joustra Sjoerd , Triggs-Raine Barbara , Fujimoto Masanobu , G. Kant Sarina , van der Kaay Danielle , Clement-de Boers Agnes , Brooks A.S. , Amador Aguirre Gabriel , Martín del Estal Irene , Inmaculada Castilla de Cortázar Larrea María , Massoud Ahmed , A. Van Duyvenvoorde Hermine , De Bruin Christiaan , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

hrp0092p2-96 | Diabetes and Insulin | ESPE2019

Evaluation of Celiac Disease Antibodies and 25-OH Vitamin D in Type 1 Diabetic Patients

Navasardyan Lusine , Ghubatyan Anna , Arzumanyan Angelina , Gevorgyan Nune , Aghajanova Elena

Background: In diabetic patients vitamin D seems to play a role not only on bone metabolism, but also on many other organs and/or systems, such as lipid profile, cardiovascular system, etc. We decided to evaluate whether the celiac disease antibodies in type 1 diabetic patients have a connection with 25-OH vitamin D status.Materials and Methods: 78 young patients with type 1 diabetes were evaluated with mean age of 14&#1...

hrp0086p2-p154 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Comparison of Two Different Stoss Therapy Doses in Children with Vitamin D Deficiency or Insufficiency without Rickets

Kocyigit Cemil , Catli Gonul , Ince Gulberat , Can Penbe S. , Dundar Bumin N

Background: There is no agreement on the optimal treatment of children with vitamin D deficiency or insufficiency without obvious signs of rickets.Objective and hypotheses: To compare the efficacy and side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) in children with vitamin D deficiency or insufficiency without rickets.Method: A total of ...

hrp0084p3-909 | Fat | ESPE2015

Survey Serum 25-Hydroxyvitamin D Concentration in Obese Children and Clinical Significance in Chinese Population

Yang Yu , Xu Lei

Background: Simple obese is a worldwide public health problem. Recent studies suggested a possible relationship between obese and vitamin D deficiency.Objective and hypotheses: To discuss the relationship between 25-Hdroxyvitamin D with glucose and lipid metabolism of simple obese in Chinese children.Method: 65 children with obeses (35 mild-to-moderate, 50 severe) and sixty-two children with normal weight were enrolled in this tria...