hrp0082p2-d3-619 | Turner Syndrome | ESPE2014

A Child with Clinical and Cytogenetic Features of Male Edward Syndrome and Turner Syndrome with Bilateral Gonadoblastoma in Infancy

MacMahon J , Morrissey R , McDermott M , Quinn F , Green A , Lynch SM

Background: Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,Xiq, although mosaicism including the presence of a Y chromosome has been well documented. It is associated with increased risk of gonadoblastoma (GB).Objective and hypotheses: To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X, 47,XY+18 karyotype.Metho...

hrp0082p3-d1-701 | Diabetes | ESPE2014

Changing Presentation of Type 1 Diabetes to a Tertiary Paediatric Centre

Mc Grath Niamh , Mc Glacken-Byrne S M , Hawkes C P , Murphy N P

Background: The prevalence of childhood type 1 diabetes mellitus (T1DM) is increasing and the age at presentation is falling. Late presentation with diabetic ketoacidosis (DKA) is more common in younger children who are at increased risk of cerebral oedema.Objective and hypotheses: To describe the clinical presentation of new onset T1DM to our centre and report time to diagnosis, incidence of DKA, requirement for intensive care and complications.<p c...

hrp0082p3-d3-838 | Growth (2) | ESPE2014

Analysis of the Effectiveness of Treatment with GH in a Tertiary Hospital in the Last 30 Years

Rojo Jaime Cruz , Lorenzo Lucia Garzon , Gomez Ma Elena Gallego , Pozo Jaime Sanchez del

Objective: To analyze the efficacy of GH treatment in pediatric patients in a hospital from 1982 to 2013.Material and methods: Retrospective study whose population are patients who have been or are being treated with GH in a Tertiary Hospital. The following data were collected: indication of treatment, years of treatment, genetic target height, height at start and the end of treatment, with their corresponding S.D.. A simple linear regress...

hrp0082p3-d2-854 | Growth (3) | ESPE2014

Descriptive Analysis of Medication Adherence for Patients Treated with GH Therapy

Michels S L , Uribe C , Li Y , Meletiche D M , Velez F F , Locklear J C

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

hrp0084wg3.4 | DSD | ESPE2015

I-DSD and I-CAH Registry Update

Ahmed Faisal , Bryce J , Jiang J , Watt J , Rodie M E

Background: Whilst adhering to the highest standards of data governance and security, the International DSD Registry (www.i-dsd.org) and the International CAH Registry (www.i-cah.org) allow standardised collection of data and promote multicentre collaboration across national boundaries and across multiple clinical and research disciplines.Results: By April 2015, over 1600 cases had bee...

hrp0084fc10.5 | Perinatal Endocrinology | ESPE2015

Lack of Association between Transient Hypothyroxinaemia of Prematurity and Neurodevelopmental and Behavioral Outcomes in Young Adulthood

Hollanders Josephina J , Israels Joel , van der Pal Sylvia M , Rotteveel Joost , Finken Martijn J J

Background: Preterm newborns are at risk of becoming transiently hypothyroxinaemic, which has been associated with neurodevelopmental impairments in childhood. It is not known whether these associations persist into adulthood.Objective and hypotheses: We studied the relation between transient hypothyroxinaemia of prematurity and IQ, neuromotor functioning and problem behaviour at young adult age.Method: This was a prospective study...

hrp0084p1-98 | Growth | ESPE2015

GH Excess in McCune–Albright Syndrome

Tessaris Daniele , Boyce Alison M , Matarazzo Patrizia , Lala Roberto , Collins Michael T

Background: McCune–Albright Syndrome is a combination of polyostotic fibrous dysplasia (BFD), café’-au-lait skin pigmentation and hyperfunctioning endocrinopathies. It results from postzygotic mutations in a-subunit of the Gsalfa protein and the consequent phenotype is a mosaic with high degree of clinical variability.Objective and hypotheses: The aim of the study is determine prevalence and characteristics of GH hypersecretion (GHH) in MA...

hrp0084p1-116 | Puberty | ESPE2015

FSHB/FSHR Genetic Variants alter Serum FSH Levels and Prepubertal Ovarian Follicular Growth in Healthy Girls

Busch Alexander S , Hagen Casper P , Almstrup Kristian , Main Katharina M , Juul Anders

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

hrp0084p2-210 | Bone | ESPE2015

Genetic and Epigenetic Alterations at the GNAS Locus and Clinical Consequences in Pseudohypoparathyroidism: A New Healthcare Pathway

Giachero Federica , Elli Francesca M , Baricco Marta , Matarazzo Patrizia , Mantovani Giovanna , de Sanctis Luisa

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

hrp0084p2-251 | Diabetes | ESPE2015

Sick Day Rule: Survey of Parents of Children with Type 1 Diabetes (Experience and Knowledge)

Agwu Juliana Chizomam , Ng S May , Drew J , Edge J , Kershaw M , Wright N , Gardner C

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...