hrp0082p3-d1-823 | Growth | ESPE2014

Three-Years Height Outcome During rhGH Therapy in Severe Short Subjects Affected by Skeletal Dysplasias

Massart F , Gnesi L , Baggiani A , Miccoli M

Background: Skeletal dysplasias comprise heterogeneous disorders often characterised by short stature with abnormalities of one or more of epiphysis, metaphysis or diaphysis. Over 200 types of skeletal dysplasias are identified, most of which are autosomal dominantly inherited. Actually, surgery has attempted to correct bone deformities but drug therapy for improving their severe short stature has been rarely attempted.Objective and hypotheses: Administr...

hrp0097p1-7 | Adrenals and HPA Axis | ESPE2023

The process of knowledge-making with a patient encounter – from education to negotiation of the way of treatment in patients with congenital adrenal hyperplasia (CAH).

M. Kucharska Anna , Radkowska-Walkowicz Magdalena

Introduction: CAH is a chronic inherited disease which needs the treatment for the whole life. This situation forms the necessity of a proper patient- doctor relations: not only compliance, but rather informed cooperation. The neonatal screening for CAH allowing the early diagnosis and treatment and availability of internet sources of professional knowledge is the new challenge in the way of education of patients. In Poland there is still observed the dominanc...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0092p3-70 | Diabetes and Insulin | ESPE2019

Indicators of Caries Risk in Children with Type 1 Diabetes Mellitus

M El-Tekeya , M El Tantawi , H Fetouh , Mowafy Ehsan , Khedr N Abo

Purpose: was to evaluate the interaction of caries risk indicators and metabolic control in children with type 1 diabetes mellitus.Methods: The study included 50 children with type 1 DM and 50 healthy controls. Diabetic children were classified into 3 groups: well, fairly, and poorly controlled based on glycosylated hemoglobin level. Personal, family data, medical and dental history were collected. Children were examined...

hrp0089p1-p208 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Testicular Development and Puberty in Boys with Duchenne Muscular Dystrophy: Results From the ScOT-DMD Study

Denker M , Joseph S , DiMarco M , Dunne J , Horrocks I , Ahmed SF , Wong SC

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

hrp0086p1-p143 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Impact of Anti-Tumour Necrosis Factor Therapy on the Insulin Like Growth Factor Axis and Bone Development in Childhood Crohn’s Disease

Altowati M. , Malik S. , Shepherd S. , McMillan M. , McGrogan P. , Ahmed S.F. , Wong S.C.

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

hrp0082p1-d3-132 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Impact of Maternal and Fetal Inflammatory Markers on Neonatal and Infant Adiposity

Donnelly Jean M , Walsh Jennifer M , Horan Mary , Molloy Eleanor J , Auliffe Fionnuala Mc

Background: The effect of maternal obesity and the associated maternal inflammation on neonatal and paediatric health and wellbeing over the early childhood years is not fully understood.Objective and hypotheses: This study aimed to determine the impact of maternal and fetal inflammatory factors on infant anthropometric measurements.Method: 265 mother–infant pairs from an RCT assessing the effect of a low glycaemic index diet ...

hrp0082p2-d2-471 | Growth (1) | ESPE2014

When and Why Should We Investigate the SRCAP Gene in Cases of Short Stature?

Lucas Luiza Silveira , Boycott Kym M , Nikkel Sarah M , Lucas Elizabeth Lemos Silveira

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.Objective: To investigate the presence of SRC...

hrp0082p3-d1-671 | Bone | ESPE2014

A Challenging Diagnosis of Pseudohypoparathyroidism Type 1a and Practical Management: a Case Report

Grace M L , O'Riordan S , O'Connell S M , Bogue C , Joyce C , Allgrove J

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

hrp0082p3-d2-721 | Diabetes (1) | ESPE2014

Glycemic Variability and Metabolic Control in Pediatric Patients with Type 1 Diabetes Mellitus

Martin-Frias Maria , Roldan M Belen , Alonso M Milagros , Oyakawa Yoko Patricia , Alonso Daniel , Barrio Raquel

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...