hrp0092p2-167 | GH and IGFs | ESPE2019

Adherence and Long-Term Outcomes of Therapy in Pediatric Subjects in Argentina using Easypod™ Electromechanical Device for Growth Hormone Treatment: The Phase IV Multicentre Easypod™ Connect Observational Study (ECOS)

Chareca Cinthia D , Belgorosky Alicia , Chiarpenello Javier , Colombi Lia , Pasqualini Titania , Von Schulz Hausmann Cristian , Assefi Aria , miras mirta

The Easypod™ Connect Observational Study (ECOS) assessed real-time adherence in patients from 24 countries who were receiving recombinant human growth hormone (r-hGH; Saizen®) via easypod™, which is an electronic injection device. Overall, ECOS showed mean adherence was maintained at ~80% for up to 3 years. Here, we assess the adherence to r-hGH administered via easypod™ in the Argentinian cohort of patients from ECOS (NCT01582334).<p class="ab...

hrp0092p2-287 | Thyroid | ESPE2019

Bone Homeostasis in Children with Subclinical Hypothyroidism: Effects of Two-years Treatment with Levothyoxine

Barbieri Flavia , Esposito Andrea , D'Acunzo Ida , Lorello Paola , Di Mase Raffaella , Improda Nicola , Capalbo Donatella

Background: Thyroid hormone plays a key role in bone mineral homeostasis and significant alterations in its circulating levels have been associated with an impairment in skeletal growth during childhood. To date, the effects of subclinical hypothyroidism (SH) on bones have not been studied and the management of this condition is still debated.Aim: To evaluate bone mineral density (BMD) in children with mild, persistent S...

hrp0092p3-56 | Diabetes and Insulin | ESPE2019

Long-Term Honeymoon Period in Type 1 Diabetes: True Diagnosis MODY5; New Mutation of HNF1B

Bideci Aysun , Küpçü Zekiye , Döğer Esra , Çamurdan Orhun , Cinaz Peyami

Introduction: MODY is an autosomal dominant inherited type of diabetes that has been diagnosed before the age of 25 and caused by pancreatic β-cell dysfunction. HNF1B-MODY is more rare than other MODY causes and its frequency is between 1-5%. Mutations in HNF1B (MODY 5) are associated with pancreatic agenesis, kidney anomalies, genital system malformations and liver dysfunction.Case: The patient is 8 years 2 ...

hrp0089p1-p233 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Phenotypic and Genetic Assessment of Boys with a Suspected XY Disorder of Sex Development

Alimussina Malika , Diver Louise A , McNeilly Jane D , Lucas-Herald Angela K , Tobias Edward S , McGowan Ruth , Faisal Ahmed Syed

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

hrp0086p2-p160 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Fractures in Children with Type 1 Diabetes are Associated with Poorer Bone Mineral Status and Glycaemic Control

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane D , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: Type 1 Diabetes (T1D) is associated with increased fracture risk.Aim: Understand the association between glycaemic control and bone health in children with T1D.Method: Children (n, 32) with T1D and a median (range) age of 13.7 years (10.4,16.4), were recruited to study bone mineral content (TB & LS) and body composition by DXA. All data were corrected for size. Vitamin D, Bone alkaline phosphatase (BAP) and...

hrp0086p1-p640 | Growth P1 | ESPE2016

Analysis of Correlation between Stem Cells (CD133+/CD45+ and CD133+/CD45) and Anthropometric Parameters of Children with Growth Hormone/Primary Insulin-Like Growth Factor 1 Deficiency

Sawicka Beata , Moniuszko Marcin , Grubczak Kamil , Singh Paulina , Radzikowska Urszula , Mikłasz Paula , Dębrowska Milena , Bossowski Artur

Introduction: Hematopoetic progenitor stem cells (HSCs, CD133+/CD45+) and very small embryonic-like stem cells (VSELs, CD133+/CD45−) can differentiate into specific immune cells. Some studies suggest that levels of HSCs and VSELs change during therapy with growth hormone (GH) or insulin-like growth factor 1 (IGF-1). GH deficiency (GHD), an endocrine disease connected with insufficient production of GH by pituitary gland, is tre...

hrp0082p2-d3-508 | Perinatal and Neonatal Endocrinology | ESPE2014

Various Presentations of X-linked Adrenoleukodystrophy: Case Reports

Fadur Alina Daniela , Constantinescu Aurora , Rusu Cristina , Manolachie Adina , Bodescu Ioana , Branisteanu Dumitru D , Preda Cristina , Mogos Voichita , Vulpoi Carmen

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

hrp0082p3-d1-623 | Adrenals &amp; 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...

hrp0084p3-637 | Autoimmune | ESPE2015

About a Case of Basedow-Graves’ Disease in a Infant

Bassaid M A , Bouriche K , Senouci D , Mazari W , Kaddour F Hadj , Ghellai F , Bendjelloul A , Medjahdi A , Berber N , Bendeddouche A S

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

hrp0084lbp-1265 | Late Breaking Posters | ESPE2015

Profiling of a Novel NSIAD-Causing Mutation of Vasopressin Receptor 2 and its Differential Effect on Receptor Trafficking Compared to Previously Identified Mutations

Tiulpakov Anatoly , White Carl W , Abhayawardana Rekhati , Zubkova Natalia , Seeber Ruth M , See Heng B , Pfleger Kevin D G

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...