hrp0082p2-d2-541 | Puberty and Neuroendocrinology (1) | ESPE2014

Normal Minipuberty in a Patient with DAX1 Mutation: a Reliable Marker of the Function of the Hypothalamic–Pituitary–Gonadal Axis?

Fudvoye Julie , Christine Lebrethon Marie , Pierre Bourguignon Jean , Simone Parent Anne

Background: We report here the case of a 5-week-old male patient, referred to the hospital because of failure to thrive. An adrenal insufficiency was diagnosed and the genetic testing showed a mutation in the DAX1 gene leading to a premature stop codon.In addition to adrenal hypoplasia congenita, DAX1 mutation is known to be classically associated with hypogonadotrophic hypogonadism which is mostly characterized by absence of onset of puberty and inferti...

hrp0082p3-d1-911 | Pituitary | ESPE2014

Primary Polydipsia in a Family with Mutation in the AVP Gene and Proven Central Diabetes Insipidus

Casey Ruth , Hannon Anne Marie , Joyce Caroline , O'Halloran Domhnall , O'Connell Susan

Background: Diabetes insipidus (DI) is characterised clinically by the inappropriate production of large volumes of dilute urine even in the presence of clinical dehydration or deprivation of water. DI occurs either due to a deficiency or insufficiency of arginine vasopressin (AVP) hormone production. Hereditary DI accounts for <10% of the DI cases. As hyponatraemic seizures secondary to inappropriate use of desmopressin can occur, caution is required before a diagnosis of...

hrp0084p1-106 | Perinatal | ESPE2015

Influence of Nocturnal Glycaemia on Ventricular Repolarisation and Heart Rate Variability in Prepubertal Children with Type 1 Diabetes

Saade Marie-Beatrice , Pecquet Aurelien , Pladys Patrick , Beuchee Alain , Pele Fabienne , Nivot Sylvie , de Kerdanet Marc

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...

hrp0084p1-117 | Puberty | ESPE2015

Transient Breast Budding in Healthy Girls is a Frequent Phenomenon: Description of Pubertal Progression and Associations to Gonadotropins, Estradiol and FSHB/FSHR Genetic Polymorphisms

Johansen Marie Lindhardt , Hagen Casper P , Mieritz Mikkel G , Petersen Jorgen Holm , Juul Anders

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

hrp0084p1-137 | Turner &amp; Puberty | ESPE2015

Normalization of Puberty and Adult Height in Girls with Turner Syndrome, Randomised Trials vs Age and Dose at GH-Start

Kristrom Berit , Ankarberg-Lindgren Carina , Barrenas Marie-Louise , Nilsson Karlolof , Albertsson-Wikland Kerstin

Background: Early TS diagnosis permits early GH start and estradiol (E2) supplementation approaching adult height (AH) at normal age and within a normal range. However, higher age at diagnosis is still a challenge.Objective and hypotheses: The hypothesis from our long-term trials will result in knowledge for personalized treatment in order to obtain a psychological acceptable age at onset of puberty and still an attained AH within normal range...

hrp0084p2-169 | Adrenals | ESPE2015

References Values Under Synacthen Test for Six Steroids in Serum by LC-MS/MS

Souillot Marie , Plotton Ingrid , Rigaud Chantal , Tardy Veronique , Ruet Severine , Morel Yves

Background: The response to ACTH test (synacthen®) is a very useful for the screening of steroidogenesis enzymatic deficiency. With the development of steroid quantification by LC-MSMS more specific than most of immunoassays, the determination of reference value is required at basal and under stimulation time.Objective and hypotheses:: The aim of this study is the determination in the same extraction and chromatography after Synacthen references val...

hrp0084p2-279 | Diabetes | ESPE2015

Dive: A Serious Game for Diabetes Therapeutic Education in Children

Godot Cecile , Lepage Nadine , Jourdon Isabelle , Schmidt Marie-Eve , Maccini Pierre , Polak Michel , Beltrand Jacques

Background: Implementation of type 1 diabetes (T1D) in children is constant from 20 years. In combination with insulin treatment, therapeutic patient education (TPE) is essential to improve care and prognostic. The use of video games as educational support appears suitable for learning in children, innovative, and interesting to respond to the increase in TPE needs in T1D and current economic constraints.Objective and hypotheses: To validate in a proof o...

hrp0084p2-338 | Fat | ESPE2015

A Novel Melanocortin-4-Receptor Gene Mutation Associated with Early Onset Severe Obesity

Toumba Meropi , Shammas Christos , Neocleous Vassos , Phelan Marie , Skordis Nicos , Phylactou Leonidas , Mantzoros Christos

Background: The melanocortin-4-receptor gene (MC4R) is a key regulator for appetite and satiety. MC4R mutations account for 6–8% of severe obesity in children with variable expression and penetrance.Case presentation: A 3-year-old girl is presented with severe early onset and progressive obesity. She was born full-term with appropriate of gestational age weight by non-consanguineous parents. She had normal psychomotor milestones an...

hrp0084p3-841 | Fat | ESPE2015

Turn off and Turn in: The Influence of Television Viewing and Sleep on Lipid Profiles in Children

Manousaki Despoina , Radji Sanyath , Barnett Tracie , Mathieu Marie-Eve , Gray-Donald Katherine , Henderson Melanie

Background: Physical activity is beneficial to lipid profiles, however the association between sedentary behaviours and paediatric dyslipidaemia remains controversial. Understanding these associations is critical given that youth are increasingly engaging in sedentary pursuits, and are sleeping, on average, 1 h less than children were 20 years ago.Objective and hypotheses: To investigate whether various forms of sedentary behavior/sleep predict lipid pro...

hrp0084p3-1107 | Pituitary | ESPE2015

Between 3 to 4 Years after Severe Traumatism Brain Injury 22% at Least of Children and Adolescents do have Persistent Pituitary Dysfunction

Dassa Yamina , Personnier Claire , Crosnier Helene , Chevignard Mathilde , Bourgeois Marie , Viaud Magali , Polak Michel

Background: Traumatic brain injury (TBI) is common in childhood but long-term endocrine consequences are yet to be documented by prospective data.Objective and hypotheses: We have previously demonstrated in prospective study that, 1 year after severe accidental TBI (ATBI) or inflicted TBI (ITBI), children and adolescents may present pituitary and growth hormone (GH) dysfunction. We present here the follow-up of this population to determine whether or not...