hrp0082p1-d3-88 | Diabetes (2) | ESPE2014

Improved Health-related Quality of Life with Insulin Therapy in Children with Cystic Fibrosis-related Diabetes: a Prospective Cohort Study

George Sherly , Hoey Hilary M C V , Costigan Colm , Murphy Nuala , Roche Edna F , O'Riordan Stephen M P

Background: Cystic fibrosis-related diabetes (CFRD) is a common complication in cystic fibrosis (CF). CFRD symptoms and treatment may impose additional burden and adversely affect their QoL.Objective and hypotheses: Assess HRQoL in CF children with normal glycaemia (CFN) and CFRD and evaluate the change in HRQoL over 1 year period along with clinical changes.Method: A prospective study was undertaken including children aged 10&#150...

hrp0082p1-d1-140 | Growth | ESPE2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Klammt Jurgen , Neumann David , Andrew Shayne F , Drahosova Marcela , Stobbe Heike , Buckham Kyle , Rosenfeld Ron G , Pfaffle Roland , Hwa Vivian

Background: GH insensitivity is caused by disturbances of GH receptor function or inability to transduce the hormone signal. Affected children are severely growth retarded and may also present immune complications when the transducer STAT5B is defective. Only autosomal-recessive STAT5B mutations have been described to date.Clinical case: Two male 14.5 year monozygotic twins presented with heights of 131.5 cm (−5.3 SDS). Bone age of the ind...

hrp0082p1-d2-156 | Growth (1) | ESPE2014

Gender Difference in Secular Trend in Sweden

Holmgren Anton , Niklasson Aimon , Nierop Andreas F M , Gelander Lars , Sjoberg Agneta , Aronson Stefan , Albertsson-Wikland Kerstin

Background, objective and hypotheses: By using QEPS, a new mathematic growth model, different components of growth can be analyzed, comparing secular trends of prepubertal and pubertal growth in Swedish birth cohorts born 1974 and 1990.Materials and methods: Two birth cohorts followed to adult height (AH) born around 1974 (1691 boys; 1666 girls) and 1990 (1647 boys; 1501 girls) being healthy, Nordic and born term. A subpopulation of 1974 (1177 boys; 1168...

hrp0082p3-d1-623 | Adrenals & HP Axis | ESPE2014

Pseudohypoaldosteronism Type 1: Role of Urinary Steroid Profiling in Specific and Early Diagnosis: Lessons in Differential Diagnosis of PHA1 vs PHA2 (Renal Tract Anomaly)

Abbot V , Ghataore L , Pieterse D J , Chapman S , Kapoor R R , Taylor N F , Buchanan C R

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

hrp0084p1-63 | DSD | ESPE2015

Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

Batista Rafael Loch , Inacio Marlene , Oliveira Jr Ari , Brito Vinicius N , Costa Elaine M F , Domenice Sorahia , Mendonca Berenice B

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

hrp0084p2-204 | Bone | ESPE2015

Children with Coeliac Disease on Gluten Free Diet have Normal Bone Mass, Geometry and Muscle Mass

Mackinder M , Wong S C , Tsiountsioura M , Shepherd S , Buchanan E , Edwards C , Ahmed S F , Gerasimidis K

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

hrp0084p3-1007 | Growth | ESPE2015

Depth and Timing of Hypoglycaemia Achieved During Insulin Tolerance Test in Children

Wong S C , Boroujerdi M , McNeilly J , Morris W , Carson C , Mason A , Shaikh G , Ahmed S F

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

hrp0094p2-9 | Adrenals and HPA Axis | ESPE2021

Variability of advice and education for steroid sick day dosing in Duchenne Muscular Dystrophy and the impact of the COVID-19 pandemic: Results of a UK wide patient survey

Thakrar S , Cheung MS , Johnson A , Katugampola H , Manzur A , Muntoni F , Mushtaq T , Turner C , Wood C , Guglieri M , Wong SC ,

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

hrp0097p2-114 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Tailored daily transdermal testosterone treatment before hypospadias surgical repairing: preliminary data of a single center study

Lucaccioni Laura , Insalaco Anna , Vandelli Sara , Ghidini Filippo , Trevisani Viola , F. Madeo Simona , Luca Ceccarelli Pier , Iughetti Lorenzo

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...