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...

hrp0082p2-d3-617 | Turner Syndrome | ESPE2014

Early Occurrence of Gonadoblastoma Found at Elective Gonadectomy in Turner Syndrome Mosaic for Y Chromosome

MacMahon J , Morrissey R , McDermott M , O'Sullivan M , Quinn F , Green A , Lynch S A , O'Connell S M

Background: Turner syndrome (TS) is one of the most common genetic disorders in females and occurs in phenotypic females who are missing all or part of one sex chromosome. While the most common mosaic forms of the disorder are 45,X/46,XX and 45,X/46,Xiq, mosaicism for cells containing Y chromosome material is well documented.Objective and hypotheses: Owing to increased risk of gonadoblastoma (GB), current recommendations are for elective gonadectomy foll...

hrp0082p2-d1-512 | Pituitary | ESPE2014

Clinical Phenotype and Complications, Endocrinopathies and Neuroimaging Findings in a Case Series of Sod

Maris I , Howard C , Bogue C , Morrissey R , Gregory L C , O'Connell S M , Dattani M T , O'Riordan S M P

Background: Septo-optic dysplasia (SOD) is a highly heterogeneous condition with a variable phenotype, defined as two or more features of the classical triad: i) optic nerve hypoplasia, ii) midline brain defects, and iii) pituitary hormone abnormalities.Objective and hypotheses: To describe the clinical, endocrine, and neuroimaging features in eight children with SOD.Method: Eight (six males) consecutive patients, diagnosed with SO...

hrp0082p3-d1-706 | Diabetes | ESPE2014

Congenital Hyperinsulinism Linked to INS-R Mutation: Case Report

Vitaliti Marcello , Maggio Maria Cristina , Vitaliti Giuliana , Grasso Valeria , Ciofalo Amalia , Rinaudo Grazia , Tranchina Elisa , Costantino Giuseppina , Corsello Giovanni , Barbetti Fabrizio

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...

hrp0089p2-p254 | Growth & Syndromes P2 | ESPE2018

Burden and Impacts of Daily Recombinant Human Growth Hormone (r-hGH) Injections in Growth Hormone Deficient (GHD) Paediatric Patients

Loftus Jane , Pleil Andreas , Lamoureux Roger , Turner-Bowker Diane , Yaworsky Andrew , Kelly Masami , Love Emily , McNamara Michelle , Palladino Andrew

Background: Daily r-hGH injection has been safely and effectively used in paediatric patients with GHD for more than 30 years. However, little information is available describing the burden and life impacts experienced by paediatric patients related to daily r-hGH injections.Objective: To identify the burden and impacts of a daily r-hGH injection regimen on the lives of paediatric GHD patients.Methods: A retrospective meta-analysis...

hrp0092p3-127 | Fat, Metabolism and Obesity | ESPE2019

Rosuvastatain Therapy in Children with Heterozygous Familial Hypercholesterolemia, Efficacy, and Security of Low Régimen of Therapy

Awadalla Shokery

Introduction: Heterozygous familial hypercholesterolemia is as frequent as 1: 200-500, and the mortality risk is four times more than unaffected children.Nutritional therapy in addition to physical activity can help but is not enough to avoid later morbidity and mortality. Stations have shown efficacy in children, but we do not have enough data for long term safety.Aim: to compare tow regimens of therapy using rosuvastat...

hrp0089p1-p158 | GH & IGFs P1 | ESPE2018

Patients and Caregivers Perspectives on a Mobile App that Tracks Adherence and Outcomes in Children with Growth Disorders Treated with Recombinant Human Growth Hormone (r-hGH)

McNally Mark , Long Frank , Poskitt Henry , Cancela Jorge , Koledova Ekaterina , Castro Javier Sanchez

Healthcare professionals (HCPs) receive adherence information on patient Saizen® recombinant human growth hormone (r-hGH) treatment via data wirelessly transferred from the easypodTM electromechanical delivery device to the web-based eHealth platform easypodTM connect. In order to empower patients and caregivers with this information and to provide educational tools, the growlinkTM mobile app is being ...

hrp0086rfc14.5 | Growth : Mechanisms | ESPE2016

Gene Expression Profiling of Children with GH Deficiency (GHD) Prior to Treatment with Recombinant Human Growth Hormone (r-hGH) is Associated with Growth Response Over Five Years of Therapy

Stevens Adam , Murray Philip , Koledova Ekaterina , Chatelain Pierre , Clayton Peter

Background: The relationship of pre-treatment gene expression (GE) to long-term growth response in GHD is unknown. Prediction of long-term response to r-hGH therapy would allow better decision making about start and maintenance doses and hence cost:benefit.Objective and hypotheses: To assess the relationship of baseline GE to response to r-hGH over 5 years of therapy in GHD children.Method: Pre-pubertal children with GHD (n</em...

hrp0086p2-p771 | Pituitary and Neuroendocrinology P2 | ESPE2016

Compound Heterozygosity for Two Novel POU1F1 Mutations in Siblings with Isolated Childhood Onset Growth Hormone Deficiency (CO-GHD)

Grace Mariana , Nagel Mato , Joyce Caroline , Morissey Rose , O'Connell Susan

Background: CO-GHD can be caused by a variety of aetiologies, including pituitary or brain structural abnormalities, and increasingly recognised genetic mutations of pituitary transcription factors. Idiopathic GHD is a diagnosis of exclusion. POU1FI is a late pituitary transcription factor. Mutations of POU1F1 have autosomal recessive (AR) inheritance, and phenotypically present with a normal or small anterior pituitary gland on magnetic resonance imaging (MRI), they are assoc...

hrp0082p1-d1-142 | Growth | ESPE2014

Parental Gonadal Mosaicism for a BRAF Mutation in Cardiofaciocutaneous Syndrome

Geoghegan Sarah , Morrissey Rose , Shorto Jeniffer , Ramsden Simon , O'Riordan Stephen , Green Andrew , O'Connell Susan

Background: Cardiofaciocutaneous syndrome (CFCS) is a rare autosomal dominant (AD) condition characterized by cardiac abnormalities, a distinctive craniofacial appearance and short stature. Endocrine manifestations include GH deficiency and precocious puberty. CFCS is part of the RASopathy group including Noonan, LEOPARD, and Costello syndromes. The four associated genes are BRAF (~75%), MAP2K1 and MAP2K2 (~25%), and KRAS (<2%). Most individuals represent new sporadic muta...