hrp0089lb-p16 | Late Breaking P1 | ESPE2018

Successful Treatment of Alopecia Totalis with Calcitriol and Paricalcitol in Two Girls Aged 3 and 7-Years

Papadimitriou Dimitrios T , Bothou Christina , Dermitzaki Eleni , Kleanthous Kleanthis , Karkavitsas Konstantinos , Mastorakos George , Papadimitriou Anastasios

Backgound: Alopecia areata (AA) or Alopecia Totalis (AT) is an autoimmune disease directed at the hair follicle, either limited to patchy hair loss over the scalp (focalis), or as total loss of scalp hair (totalis) or as total loss of both scalp and body hair (universalis). Management can be challenging, and despite multiple treatment modalities, no therapy still stands. While localized AA may respond well to topical corticosteroids, many patients require more aggressive secon...

hrp0086rfc13.4 | Management of Obesity | ESPE2016

Which Amount of BMI-SDS Reduction is Necessary to Improve Cardiovascular Risk Factors in Overweight and Obese Children?

Reinehr Thomas , Lass Nina , Toschke Christina , Rothermel Juliane , Lanzinger Stefanie , Holl Reinhard

Background: Knowing the changes of cardiovascular risk factors (CRF) in relation to weight loss would be helpful to advise overweight children and their parents and to decide whether drugs should be prescribed in addition to lifestyle intervention.Objective and hypotheses: The aim of the study was to determine the degree of overweight reduction to improve CRFs in overweight children.Method: We studied changes of blood pressure (BP)...

hrp0086p1-p19 | Adrenal P1 | ESPE2016

Heterozygous Mutations in CYP11A1 Gene can Cause Life-Threatening Salt Wasting and Failure to Thrive

Papadimitriou Dimitrios T. , Bothou Christina , Willems Patrick J. , Zarganis Diagoras , Papaevangelou Vassiliki , Papadimitriou Anastasios

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1 gene) catalyses the conversion of cholesterol to pregnenolone in steroidogenic cells, the first step in the biosynthesis of all steroid hormones. SCC deficiency has been established as an autosomal recessive disorder caused by inactivating homozygous or compound heterozygous mutations in the CYP11A1 gene, with a wide phenotypic spectrum ranging from prematurity, complete underandrogenization and severe early-onset...

hrp0086p1-p203 | Diabetes P1 | ESPE2016

Diabetes Mellitus Caused by Bone Marrow Transplantation and Total Body Irradiation – Experience from a Regional Single Centre

Candler Toby , Wei Christina , Bradley Karin , Cox Rachel , Elson Ruth , Stevens Michael , Crowne Elizabeth

Background: Diabetes is a recognised long term sequelae in childhood cancer survivors following bone marrow transplantation and total body irradiation (BMT/TBI), due to a combination of insulin deficiency and resistance.Aim: To characterise presentation, treatment and clinical course of diabetes in childhood leukaemia survivors post BMT/TBI.Method: A single centre retrospective case note review of diabetes post BMT/TBI identified f...

hrp0086p2-p308 | Diabetes P2 | ESPE2016

The Autoimmune Hypothesis for Acute Bilateral Cataract in Type 1 Diabetes

Papadimitriou Dimitrios T , Bothou Christina , Skarmoutsos Filippos , Alexandrides Theodoros K , Papaevangelou Vassiliki , Papadimitriou Anastasios

Background: Cataract as a chronic complication of diabetes is well established in the literature and the risk factors are also well known. However, rare cases of acute bilateral cataract have been reported, all of them happening relatively shortly after diagnosis in T1DM. While the pathophysiology of this phenomenon remains unclear – as a lot of different theories proposed so far with the most accepted being the osmotic stress induced oxidative damage – fail to expla...

hrp0082p1-d2-29 | Autoimmune Endocrine Disease | ESPE2014

Standard Population Screening for Diabetes Mellitus has Low Sensitivity in Identifying Diabetes in Adult Survivors of Childhood Bone Marrow Transplantation with Total Body Irradiation

Wei Christina , Unsworth Rebecca , Davis Nikki , Elson Ruth , Bradley Karin , Stevens Michael , Crowne Elizabeth

Background: Adult survivors of childhood leukaemia treated Bone marrow transplantation with total body irradiation (BMT/TBI) have an increased risk of diabetes mellitus (DM) disproportionate to their level of adiposity or other recognised risk factors. Post prandial hyperglycaemia due to reduced β-cell reserve after irradiation will be missed by fasting glucose (FG) levels. However, the UK National Institute of Clinical Excellence (NICE) screening guidelines recommend the...

hrp0082p1-d3-56 | Bone (1) | ESPE2014

Effect of a Vibration Based Rehabilitation Concept On Bone and Muscle Development in Children with Osteogenesis Imperfecta

Semler Oliver , Hoyer-Kuhn Heike , Stark Christina , Struebing Nora , Goebel Oranna , Schoenau Eckhard

Introduction: Osteogenesis imperfecta is a rare disease leading to immobility by recurrent fractures, hyperlaxicity of ligaments, short stature and muscular weakness. Beside drug treatment and surgical procedures physiotherapy is one of the most important treatment approaches to increase mobility. The objective of our analysis was to evaluate the effect of a new standardized 12 months physiotherapy concept including whole body vibration over 6 months on motor function and bone...

hrp0084p1-138 | Turner & Puberty | ESPE2015

Weight Gain in Turner Syndrome: Association to Puberty Induction?

Reinehr Thomas , Lindberg Anders , Toschke Christina , Cara Jose , Chrysis Dionisios , Camacho-Hubner Cecila

Background: We have recently reported a BMI-SDS increase in girls with Turner syndrome (TS) treated with growth hormone (GH) (1).Objective and hypothesis: We hypothesise that puberty induction in TS is associated with weight gain.Method: We analysed the weight changes (BMI-SDS) of 888 girls with TS in the Pfizer International Growth Database (KIGS). Overweight was defined by a BMI >90th percentile and obesity by a BMI >97th...

hrp0084p2-240 | Bone | ESPE2015

Size-Corrected Bone Mineral Density is not Affected by Haematopoietic Stem Cell Transplantation and Total Body Irradiation in Leukaemia Survivors

Wei Christina , Elson Ruth , Cox Rachel , Bradley Karin , Barton John , Stevens Michael , Crowne Elizabeth

Background: Childhood haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors have multiple risk factors for reduced bone mineral density (BMD) and poor growth. Reduced z-scores from dual energy x-Ray absorptiometry (DEXA) have been reported, but are unreliable in patients with short stature/abnormal body composition.Objective: To investigate the influence of HSCT/TBI on size-corrected BMD in childhood leukaemia ...

hrp0084p2-336 | Fat | ESPE2015

Diagnosing the Metabolic Syndrome in Survivors of Childhood Haematopoietic Stem Cell Transplantation and Total Body Irradiation

Wei Christina , Hunt Linda , Elson Ruth , Cox Rachel , Bradley Karin , Shield Julian , Stevens Michael , Crowne Elizabeth

Background: The well-documented increased cardiometabolic risk in haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors is under-recognised using standard (International Diabetes Federation (IDF)) metabolic syndrome (MetS) criteria. This is defined as the presence of central adiposity using increased waist circumference (WC) or BMI, (often not abnormal in HSCT/TBI survivors despite increased central adiposity), plus additional features includ...