hrp0082p1-d1-68 | Diabetes | ESPE2014

Evaluation of Bone Geometry, Quality, and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers, and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children w...

hrp0084p3-641 | Bone | ESPE2015

Evaluation of Bone Geometry, Quality and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

hrp0086p2-p534 | Fat Metabolism and Obesity P2 | ESPE2016

Value of BMI-SDS, Waist Circumference-SDS and Waist-to-Height Ratio in the Identification of Obese Children and Adolescents at an Increased Risk for Cardio-Metabolic Complications

Kovac Jernej , Pavlic Petra , Perdih Brigita , Kotnik Primoz

Background: Determination of obese children/adolescents at an increased risk of cardio-metabolic complications is of paramount significance for early intervention.Objective and hypotheses: To determine the value of simple anthropometric measures of obesity (BMI-SDS, waist circumference (WC)-SDS, waist-to-height ratio (WHR)) in the determination of individuals at an increased risk for selected cardio-metabolic complications (impaired glucose metabolism, d...

hrp0082p2-d1-458 | Growth | ESPE2014

Two Duplications Within PAR1 in a Family With Idiopathic Short Stature

Obermannova Barbora , Drabova Jana , Dusatkova Petra , Lebl Jan

Background: Short stature homeobox-containing gene (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. SHOX mutations and PAR1 deletions encompassing SHOX or its upstream/downstream enhancers have been identified in ~60% of Léri-Weill dyschondrosteosis (LWD) and ~5–15% of idiopathic short stature (ISS) patients. Recently SHOX duplications have been described in LWD/ISS individuals.Case presentation: The boy was ...

hrp0084p1-80 | Growth Hormone | ESPE2015

Good Clinical Response to the Growth Hormone Therapy in the Patient with Familiar Short Stature Caused by Novel p.Val478Serfs*14 Mutation in ACAN Gene and Isolated Growth Hormone Deficiency

Pruhova Stepanka , Dusatkova Lenka , Dusatkova Petra , Zemkova Dana , Lebl Jan

Background: Recently a heterozygote mutations in the gene ACAN coding the protein aggrecan has been described as a cause of familiar short starture combined with accelerated bone age. The aggrecan is an extracellular proteoglycan in cartilage of growth plates and plays an important role in biological and biomechanical properties of cartilage.Objective and hypotheses: To provide a genetic screening of ACAN within the families with familiar short stature a...

hrp0084p3-791 | DSD | ESPE2015

‘Female’, ‘Male’, or ‘Between’ in a 46, XY-Patient with a 17ß-HSD3-Mutation

Willig Rolf Peter , Algenstaedt Petra , Mohnike Klaus , Hiort Olaf

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

hrp0094p1-104 | Adrenal B | ESPE2021

”Cortison-loop” is an educational tool, which helps ensure the quality of care for children with adrenal insufficiency.

Ernstsson Camilla , Renholm Petra , Molin AEsa , Ellerth Ebba , Lundberg Elena ,

Background: Adrenal insufficiency is a severe condition, which occurs for numerous different reasons. Diseases often require a period or even a lifelong treatment of cortisone and/or mineralocorticoid. Ensuring that families of patients who suffer from adrenal insufficiency have a high level of understanding and knowledge of the disease from the outset is key to them comprehending the severity of the disease, which in turn increases the chances of good complia...

hrp0094p2-270 | Growth hormone and IGFs | ESPE2021

Unified training materials to improve adherence to GH-treatment

Lundberg Elena , Renholm Petra , Molin AEsa , Ellerth Ebba , Ernstsson Camilla ,

Background: Since the 1980s, growth hormone (GH) treatment has been administered to children as daily subcutaneous (SC) injections. GH-treatment is extremely costly, and requires a high level of training and education, otherwise there is a risk of a poor response to treatment by the patient. This can lead to a waste of time and money for the family. The key to good adherence and successful treatment is patient understanding of the growth/metabolic problem and ...

hrp0092fc12.2 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

NPR2 Gene Mutations were Found in 5.4% Children with Familial Short Stature

Plachy Lukas , Petruzelkova Lenka , Strakova Veronika , Elblova Lenka , Kucerova Petra , Obermannova Barbora , Kolouskova Stanislava , Snajderova Marta , Zemkova Dana , Dusatkova Petra , Lebl Jan , Sumnik Zdenek , Pruhova Stepanka

Introduction: C-type natriuretic peptide receptor encoded by NPR2 gene stimulates chondrocyte differentiation and hypertrophy and extracellular matrix production within the growth plate. The phenotypical spectrum of NPR2 mutations is broad, from severe autosomal recessive acromesomelic dysplasia to milder autosomal dominant growth disorders. Some children with NPR2 variants are treated with growth hormone (GH), however, with the inco...

hrp0092p1-317 | Diabetes and Insulin (2) | ESPE2019

Unexplained Neonatal Deaths Among Kurdish Consanguineous Families: Importance of Recognizing Congenital Hyperinsulinism and Testing for KATP Channel Gene Variants

Anne Amaratunga Shenali , Tayeb Tara Hussein , Rozenkova Klara , Kucerova Petra , Pruhova Stepanka , Lebl Jan

Context: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Severe forms of CHI, caused by autosomal recessive variants in KATP channel subunit genes (ABCC8, KCNJ11), are more prevalent in regions with high consanguinity. These regions also have a high neonatal mortality rate with many deaths remaining unexplained.Patients and Methods: We analyze...