hrp0092fc12.5 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Integrated Analysis of Baseline Blood Transcriptome and Genome Identifies Clusters of Turner Syndrome Patients with Different Responses to Recombinant Human Growth Hormone

Sellers Robert , Amin Amina , Patel Kajal , Garner Terence , Whatmore Andrew , Koledova Ekaterina , Murray Philip , Chatelain Pierre , Clayton Peter , Stevens Adam

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...

hrp0084p2-312 | DSD | ESPE2015

Birth Weight in Different Aetiologies of Disorder of Sex Development

Poyrazoglu Sukran , Darendeliler Feyza , Ahmed Syed Faisal , Bryce Jillian , Jiang Jipu , Rodie Martina , Hiort Olaf , Hannema Sabine E , Bertelloni Silvano , Lisa Lidka , Guran Tulay , Hughes Ieuan , Cools Martine , Chatelain Pierre , Claahsen-van der Grinten Hedi L , Nordenstrom Anna , Holterhus Paul-Martin , Kohler Birgit , Niedziela Marek , Krone Nils

Background: It is well known that boys are heavier than girls at birth. Causes of this difference are thought to originate from the Y chromosome and as a result of androgen action. Although some studies showed that sex dimorphism in size at birth is dependent of fetal androgens, one study reported that it is not generated by action of androgens.Objective and hypotheses: To determine birth weight (BW) of children in different aetiologies of disorder of se...

hrp0086p2-p641 | Growth P2 | ESPE2016

Hypochondroplasia (HC) Treatment with rGH: Actualization of Pilot Observations

Bougneres Pierre , Linglart Agnes

Background: In patients with HC due to N540K FGFR3 mutations, adult height ranges 138–155 cm (men) and 128–145 cm in women. We have previously reported that a mean 0.075 μg/k.d rGH dose could allow a gain of 1.9 S.D. of height over 6.1 year and could reduce body disproportion in 6 young patients (Journal of Pediatrics 2012).Objectives: To confirm these results and extend observation of rGH effects.<p class="abst...

hrp0082wg5.5 | Paediatric and adolescent gynaecology | ESPE2014

Contraception in Adolescence from a Public Health Perspective

Michard Pierre-Andre

Recent data pertaining to the bio-psychosocial development of the adolescent, particularly from a neurobiological perspective, indicate that both at the level of individual care and of preventive strategies, the concepts, languages and strategies used should be adapted to the maturity of the adolescents. Moreover, since around thirty years under the era of AIDS, the medical scientific literature tackling the issue of adolescent sexuality and sexual behavior has sadly focused e...

hrp0082wg8.1 | GPED | ESPE2014

Global Pediatric Endocrinology and Diabetes: Opportunities and Call for Membership Involvement

Chanoine Jean-Pierre

Global Pediatric Endocrinology and Diabetes (GPED) aims at addressing needs that are common to all societies and is not intended to duplicate the specific societies’ activities. GPED’s website (www.globalpedendo.org) allows for registration of members as well as for a search function.Specific existing and potential projects include:i) Preventing redundancy of resources: developme...

hrp0086fc10.4 | Perinatal Endocrinology | ESPE2016

In Utero and Postnatal Consequences of Psychological Maternal Stress have Different Effects On Longevity: Studies in World War 1 Orphans

Todd Nicolas , Valleron Alain-Jacques , Bougneres Pierre

Background: Early life stress (ELS) are known to have a deleterious impact on health, but their potential long-term consequences on mortality remain to be assessed. World War 1 (WW1) has caused major stress and bereavement to millions of European mothers.Objectives and hypotheses: To compare the effects of a maternal stress occurring during intra uterine or in postnatal life upon long-term mortality.Patients: Thanks to recently dig...

hrp0086fc14.3 | Growth : Mechanisms | ESPE2016

CG at the Methylation IGF1 Locus is an Epigenetic Predictor of GH Sensitivity

Ouni Myriam , Castell Anne Laure , Bougneres Pierre

Background: The growth and IGF1 responses to GH treatment show a large variation across children with idiopathic short stature (ISS). Compliance and GH regimens are important determinants. The d3 variant of the GH receptor (GHR) is a significant genetic predictor. The role of individual epigenetics had not been studied. The IGF1 locus is an attractive candidate where CG methylation could influence GH action.Objectives: To study GH effects on a) IGF1 gene...

hrp0084p3-1251 | Programming &amp; Misc. | ESPE2015

Sexually Dimorphic Methylation of SF-1 in Rat Placenta after Gestational Exposure to BPA

Fudvoye Julie , Dehan Pierre , Lienard Mehdi , Trooskens Geert , Gerard Arlette , Bourguignon Jean-Pierre , Parent Anne-Simone

Background: Gestational exposure to endocrine disrupting chemicals (EDCs) can impact the control of sexual differentiation by altering the hormonal environment of the foetus. Prenatal exposure to BPA, for instance could lead to disorders of sexual development. At the interface between the mother and the foetus, the placenta plays a key role in foetal programming and responds to environmental stressors in a sex specific manner. Epigenetics has appeared to be a key mechanism for...

hrp0086fc14.2 | Growth : Mechanisms | ESPE2016

CG Methylation at the IGF1 P2 Promoter is a Major Epigenetic Determinant of Postnatal, Not Foetal Growth

Ouni Myriam , Le Stunff Catherine , Castell Anne Laure , Bougneres Pierre

Background: The height of children has a Gaussian distribution. Genetics explain an important part of individual variability, but no single genomic variant accounts for more than 0.3% of height variance. At the interface of genetics and environment, epigenetics is expected to contribute to phenotypic variability. IGF1 is an attractive locus to test this hypothesis.Objectives: To quantify the effect of CG methylation of IGF1 promoters on height.<p cla...

hrp0086p1-p42 | Adrenal P1 | ESPE2016

Acute Lysis of a Giant Pediatric Adrenal Cortical Carcinoma Following One Dose of op’DDD

Motte Emmanuelle , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: op’DDD can be used in adrenal cortical carcinoma (ACC) i) when surgery is impossible ii) or as an adjunct to surgery when local extension or metastases are present.Objectives and hypotheses: To report the unexpected spectacular effects of op’DDD in an unoperable ACC.Patient and results: A 3-year-old black African girl presented in poor shape with a 2-year history of pubic hair, clitoromegaly, abdominal distens...