hrp0082p2-d3-620 | Turner Syndrome | ESPE2014

Turner Syndrome: Analysis of Changes in the Age at Diagnosis and Phenotypic and Genotypic Description of 174 Patients

Auger Julie , Oussalah Abderrahim , Lambert Laetitia , Vigneron Jacqueline , Jonveaux Philippe , Leheup Bruno

Background: Turner syndrome, characterized by complete or partial absence of second sexual chromosome, is responsible for phenotype of variable severity.Objective and hypotheses: The main objective of this work is to describe the evolution of the age at diagnosis of Turner syndrome over time. We also performed a phenotypic and genotypic description and we assessed evolution over time.Method: It is a monocentric descriptive observat...

hrp0084wg6.1 | Turner Syndrome | ESPE2015

Incidental Prenatal Diagnosis of Turner Syndrome, Perspectives of Parents and Professionals

Pieters Jacqueline

In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits...

hrp0082p2-d3-503 | Perinatal and Neonatal Endocrinology | ESPE2014

Survey of Opinion on the Antenatal and Surgical Management of Disorders of Sex Development and Congenital Adrenal Hyperplasia

White Mary , Hewitt Jacqueline

Background: Congenital adrenal hyperplasia (CAH) is characterised by elevated adrenal androgens which can lead to virilisation of affected females.Objective and hypotheses: To outline clinical opinion on two controversial aspects of CAH management (antenatal dexamethasone and genital surgery of affected females) which was hypothesised would differ between regional centres.Methods: A survey was conducted via the Aus...

hrp0089lb-p17 | Late Breaking P1 | ESPE2018

Protein-Induced Hypoglycemia Secondary to Hyperinsulinism-Hyperammonemia (HI/HA) Syndrome: A GLUD1 Gene Mutation

D'Ambrosio Fabiola , Buchanan Ashley , Chan Jacquelin , Mantis Stelios

Introduction: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...

hrp0092p1-124 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

A Human Model Showing the Ability of Testis XX Cells to Masculinise into Sertoli Cells and Success of Microtese Surgery in Paediatric Azoospermia

Atlas Gabby , Rombauts Luk , Wall Meaghan , MacGregor Duncan , Lall Paula , Harley Vincent , Hewitt Jacqueline

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

hrp0086p2-p148 | Bone & Mineral Metabolism P2 | ESPE2016

A Preliminary Report on Body Composition Profile of Young Patients with Chronic Hemolytic Conditions

Doulgeraki Artemis , Chatziliami Antonia , Athanasopoulou Helen , Polyzois Georgios , Petrocheilou Glykeria , Iousef Jacqueline , Karabatsos Fotis , Schiza Vasiliki , Fragodimitri Christina

Background: Chronic hemolytic anemias may compromise growth through multiple mechanisms. To date, no data exist on growth and body composition (BC; bone, muscle and fat mass) of children and adolescents with chronic hemolysis.Purpose: To evaluate growth and BC of patients with thalassemia intermedia (not on regular transfusions; thal-intermedia), alpha-thalassemia and congenital spherocytosis....

hrp0082p2-d3-483 | Hypoglycaemia | ESPE2014

Neurodevelopmental Outcomes in Early and Late Presenting Congenital Hyperinsulinism

Mohamed Zainaba , Nicholson Jacqueline , Zamir Imran , Butler Thomas , Rigby Lindsey , Bowden Louise , Murray Philip , Steele Caroline , Rao Padidela Raja Narender , Patel Leena , Cosgrove Karen , Clayton Peter , Dunne Mark , Banerjee Indraneel

Background: Hypoglycaemia due to congenital hyperinsulinism (CHI) usually presents early (E-CHI) in the neonatal period, but late presentation (age >1 month) (L-CHI) also occurs. Adverse neurodevelopment is well recognised in both early and late CHI, but differences between both groups are not known.Objective and hypotheses: We examined a cohort of children with E-CHI and L-CHI to test neurodevelopmental outcomes in mid-childhood.<p class="abstex...