hrp0089p1-p171 | Growth & Syndromes P1 | ESPE2018

Prospective Study of Growth in Swedish Children Treated with Modified Ketogenic Diet

Svedlund Anna , Hallbook Tove , Magnusson Per , Dahlgren Jovanna , Swolin-Eide Diana

Purpose: Modified ketogenic diet (MKD) is one treatment option for intractable epilepsy and metabolic conditions such as glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDC) deficiency. MKD is a less restrictive diet than the classical ketogenic diet (KD) and thus more tolerable. Some studies indicate that prolonged KD treatment can negatively affect linear growth in children. Long-term data is missing regarding the effects of MKD ...

hrp0089p3-p408 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Genetic Testing by SNP Array Analysis in A Group of Romanian Patients with Disorders of Sexual Development

Miclea Diana , Alkhzouz Camelia , Bucerzan Simona , Cret Victoria , Puiu Maria , Grigorescu-Sido Paula

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...

hrp0086fc11.4 | Thyroid | ESPE2016

Decreased Proportions of CD4+IL17+/CD4+CD25+CD127− and CD4+IL17+/CD4+CD25+CD127-FoxP3+T Cells in Children with Autoimmune Thyroid Diseases

Bossowski Artur , Moniuszko Marcin , Grubczak Kamil , Snight Paulina , Bossowska Anna , Diana Tanja , Kahaly George

Background: Until now, altered balance of Th1 and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases have suggested a new role for Th17 cells that have been classified as a new lineage, distinct from Th1, Th2 and Treg cells. Despite wide interest, the role of Th17 cells in the pathogenesis of inflammatory and autoimmune diseases is still debated.<p class="abst...

hrp0086p1-p144 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Effects of Phylloquinone and Magnesium on ATDC5 Prechondrocytes

Raimann Adalbert , Javanmardi Alireza , Sagmeister Susanne , Ertl Diana-Alexandra , Claudia Hochsmann , Monika Egerbacher , Gabriele Haeusler

Background: Cell-mediated initiation of enchondral ossification is essential for growth plate maturation. The matrix mineralization inhibitors matrix Gla protein (MGP) and osteocalcin (OC) represent key regulators of matrix mineralization and are highly expressed in growth plate chondrocytes. Pharmacological or nutritional phylloquinone (K1) depletion is known to affect skeletal mineralization by reduced gamma-carboxilisation of MGP and OC. Constituents of mineral matrix such ...

hrp0086p2-p852 | Syndromes: Mechanisms and Management P2 | ESPE2016

Assessment of the Medical and Psychological Status of Women with Turner-Syndrome in Young Adulthood

Ertl Diana-Alexandra , Culen Caroline , Schubert Katharina , Raimann Adalbert , Haeusler Gabriele

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

hrp0086p2-p953 | Thyroid P2 | ESPE2016

Clinical Value of Thyroid-Stimulating Immunoglobulin in Paediatric Autoimmune Thyroid Diseases

Stozek Karolina , Bossowski Artur , Ziora Katarzyna , Bossowska Anna , Diana Tanja , Kahaly George J

Background: In Autoimmune Thyroid Disease (AITD) two types of TSH receptor antibodies (TSHR-Ab) may be distinguished: thyroid- stimulating immunoglobulin (TSI) that promotes the production of thyroid hormones and thyroid- blocking immunoglobulin (TBI) inhibiting the activity of TSH what leads contrarily to hypothyroidism.Objective and hypotheses: The aim of this study was to compare mean TSI and TBI levels in large paediatric cohort with AITD and control...

hrp0082p2-d2-297 | Bone (1) | ESPE2014

Severe Heterotopic Ossifications in a 10-year-old Boy with PHP1a

Raimann Adalbert , Alexandra Ertl Diana , Riedl Stefan , Schlegel Werner , Haeusler Gabriele

Background: Progressive osseous heteroplasia (POH) is a rare condition characterized by extensive heterotopic ossification (HO) of connective tissues. Associations of HO and Albright hereditary dystrophy (AHO) lead to the identification of GNAS mutations to be causative for ectopic none formations. The highly imprinted GNAS locus is known to cause a broad spectrum of pathologic conditions, including pseudohypoparathyrodism (PHP), pseudoPHP AHO. While PHP is caused by maternal ...

hrp0082p2-d3-341 | Diabetes (2) | ESPE2014

A Rare Cause of Obesity and Type 2 Diabetes: a Novel Alms1 Mutation in Two Siblings with Alstrom Syndrome

Hancili Suna , Guven Ayla , Apaydin Suheyla , Ardagil Aylin , Perez Diana Valverde

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

hrp0084p2-219 | Bone | ESPE2015

Early Increase of the Bone Formation Marker PINP is in a Higher Degree Related to Growth Response Compared to Bone Mineralization in GH Treated Prepubertal Children

Decker Ralph , Andersson Bjorn , Swolin-Eide Diana , Magnusson Per , Kristrom Berit , Albertsson-Wikland Kerstin

Background: It has been reported that short-term increases of the bone formation markers intact amino-terminal propeptide of type I procollagen (PINP), bone-specific alkaline phosphatase (BALP) and osteocalcin display different temporal patterns. In adults, the biphasic model of GH action in bone remodelling shows that GH treatment results initially in an increased bone resorption with a concomitant bone loss, which later on is followed by increased bone formation. In children...

hrp0094p1-157 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Endocrine Monitoring and Outcome After Therapy In Childhood Survivors of Central Nervous System Tumours

Gilani Misha , McIntosh Diana , Murphy Dermot , Ronghe Milind , Sastry Jairam , Shaikh M Guftar , Kyriakou Andreas ,

Background: Childhood cancer survivors (CCS) are at increased risk of endocrinopathies; as a consequence of cranial/craniospinal radiotherapy and alkylating agents. Hypothalamic-pituitary dysfunction, thyroid dysfunction and gonadal failure are frequently seen.Aim: To explore the endocrine monitoring following completion of treatment for central nervous system (CNS) tumours within a regional paediatric oncology service.<...