hrp0086p2-p866 | Syndromes: Mechanisms and Management P2 | ESPE2016

Endocrine and Metabolic Parameters before Onset of rGH Treatment: Potential Predictive Factors of GH Response in Children Born SGA? Results from Cohort of Nancy

Renard Emeline , Legagneur Carole , Auger Julie , Lebon-Labich Beatrice , Baumann Cedric , Leheup Bruno

Background: In spite of many studies demonstrating efficiency of recombinant growth hormone (rGH) on adult height in children born small for gestational age (SGA), great variability of response exists between treated patients. Predictive factors have been already studied such as age at start of treatment, rGH dose,…, but few data are available regarding the predictive values of pretherapeutic data on growth response.Objective and hypotheses: The ma...

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...

hrp0082p1-d1-145 | Growth | ESPE2014

Genotype–Phenotype Relationship in Patients with SHOX Region Rearrangements Detected by MLPA in the French Population

Auger Julie , Baptiste Amandine , Thierry Gaelle , Costa Jean-Marc , Amouyal Melanie , Kottler Marie-Laure , Touraine Renaud , Lebrun Marine , Leheup Bruno , Schmitt Sebastien , Cormier-Daire Valerie , De Roux Nicolas , Elie Caroline , Bonnefont Jean-Paul

Background: SHOX and enhancer regions on PAR1 disorders have variable phenotypic consequences such as idiopathic short stature (ISS) and Leri-Weill Dyschondrosteosis (LWD).Objective and hypotheses: The aim of this observational multicentric study was to describe phenotypes and genotypes of a large population with mutation on SHOX and adjacent regions and to identify a possible phenotype–genotype correlation.M...

hrp0084np2.2 | New Perspective Session 2 | ESPE2015

Astrocytes and Neuroendocrine Control

Chowen Julie A

Glial cells are the most abundant cell type in the CNS. Although they were originally thought to only play a supportive role for neurons, it is now clear that glial cells are involved in all aspects of brain function. Understanding how glia, and in particular astrocytes, tanycytes and microglia, participate in the neuroendocrine control of metabolic homeostasis has come to the forefront in recent years. This is largely due to the observation that high fat diet-induced hypothal...

hrp0092p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Nephrocalcinosis in Children with X-Linked Hypophosphatemia: Prevalence and Risks Factors

de Truchis Camille , Zhukouskaya Volha , Auger Martin , Rothenbuhler Anya , Linglart Agnès , Grapin Mathilde

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...

hrp0089p1-p225 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Living with Clitoromegaly: Aqualitative Interview Study of Parent’s Responses to Clitoromegaly in Congenital Adrenal Hyperplasia (CAH) with or Without Appearance Altering Surgery

Alderson Julie , Nicoll Nicky , Thornton Maia , Jones Julie , Skae Mars , Crowne Elizabeth

Controversy continues regarding surgery in infancy to address atypical genitalia in girls with CAH and other Disorders of Sex Development. There is no consensus to surgical approach. Interest in outcomes of the range of surgical and non-surgical interventions for genital diversity is growing. It is widely acknowledged that the multi-professional management to promote long term psychosocial adaptation of the child based partly on confident parenting is essential. We conducted a...

hrp0089p1-p226 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

‘You Can Put Ideas into Their Heads’: Parental Concerns about Children’s Participation in DSD Research

Alderson Julie , Nicoll Nicky , Thornton Maia , Jones Julie , Skae Mars , Crowne Elizabeth

It is acknowledged that children should collaborate in research about their health conditions, and DSD research has been criticised for promoting views of parents and health professionals. However parents are concerned about professionals talking to children about sensitive subjects including fertility and sexual activity. Children may have little experience of talking about their sex development. This makes direct research involving children with DSD particularly challenging....

hrp0092p1-246 | Multisystem Endocrine Disorders | ESPE2019

Knowledge of the Natural History of Paediatric MEN1 is Required to Inform Decision Making for Predictive Testing in Childhood

Park Julie , Collingwood Catherine , Weber Astrid , Blair Joanne

Background: Multiple Endocrine Neoplasia type 1 (MEN1) is a dominantly inherited syndrome characterised by parathyroid hyperplasia, pancreatic neuroendocrine tumours (PNET) and pituitary adenomas, although >20 tumours are described. Clinical guidelines1 recommend annual biochemical surveillance and abdominal imaging from <10yrs and pituitary imaging every 3yrs. Age at start of surveillance is derived from the youngest reported patient with a...

hrp0084p3-698 | Diabetes | ESPE2015

Adherence to Diabetic Ketoacidosis Management Protocol: a Paediatric Centre Experience

Cloutier Daphne , Barbe Joanie , Bouchard Isabelle , Gagne Julie , Bourdages Macha

Background: Paediatric diabetic ketoacidosis (DKA) management should be regulated by specific protocols. Following the Canadian Diabetes Association recommendations, our paediatric tertiary care hospital was provided with such a protocol in 2009.Objective and hypotheses: Assess the proportion of DKA episodes that are marked by non-adherence to our DKA management protocol (DKAp). We suspected a moderate non-adherence rate.Method: We...

hrp0094p1-10 | Adrenal A | ESPE2021

Glucose regulation in children with primary adrenal insufficiency: preliminary data.

Park Julie , Hawcutt Daniel , Shantsila Helen , Lip Gregory , Blair Joanne

Background: During treatment of adrenal insufficiency (AI) with hydrocortisone (HC), cortisol concentrations are supra-physiological following doses, and low before doses. We speculated that this cortisol profile may result in periods of hyperglycaemia and hypoglycaemia. We describe glucose profiles in the first 18 children recruited to a study of metabolic and cardiovascular profiles in AI. Methods: Children with primar...