hrp0094p1-143 | Sex Endocrinology and Gonads B | ESPE2021

Current clinical practice of prenatal dexamethasone treatment in at risk pregnancies for classic 21 hydroxylase deficiency in Europe

Nowotny Hanna F. , Neumann Uta , Tardy-Guidollet Veronique , Ahmed S. Faisal , Baronio Federico , Battelino Tadej , Bertherat Jerome , Blankenstein Oliver , Bonomi Marco , Bouvattier Claire , de la Perriere Aude Brac , Brucker Sara , Cappa Marco , Chanson Philippe , Grinten Hedi L. Claahsen van der , Colao Annamaria , Cools Martine , Davies Justin H. , Gunther Dorr Helmut , Fenske Wiebke K. , Ghigo Ezio , Gravholt Claus H. , Huebner Angela , Husebye Eystein Sverre , Igbokwe Rebecca , Juul Anders , Kiefer Florian W. , Leger Juliane , Menassa Rita , Meyer Gesine , Neocleous Vassos , Phylactou Leonidas A , Rohayem Julia , Russo Gianni , Scaroni Carla , Touraine Philippe , Unger Nicole , Vojtkova Jarmila , Yeste Diego , Lajic Svetlana , Reisch Nicole ,

Background: Prenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding long term adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21 hydroxylase defic...

hrp0089p3-p239 | Growth & Syndromes P3 | ESPE2018

Pharmacoeconomic and Adherence Analysis in Growth Hormone According to Galenic Presentation: In Vivo Study vs In Vitro

Diez-Lopez Ignacio , Sarasua Ainhoa , Lorente Isabel , Minguez Ana Cristinaa , Martinez Carlos

Currently in Spain, treatment with GH is approved for hospital use with different formulations (JM), multidose vials (VM) and systems with electronic self-injection devices (DE). The long-term treatments, involves the lack of adherence to GH in pediatric patients, it has been estimated a lack of adherence between 5 and 82%. The main objective of this study is to perform a comparative analysis of costs and product loss among the different GH presentations approved in Spain in p...

hrp0089rfc7.4 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Expression of MIR-576-5p in Umbilical Cord as a Novel Biomarker for the Identification of Catch-up Growth in Small-For-Gestational-Age Infants

Bassols Judit , Mas-Pares Berta , Bonmati Alexandra , Xargay-Torrent Silvia , Carreras-Badosa Gemma , Lizarraga-Mollinedo Esther , Martinez-Calcerrada Jose-Maria , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Early catch-up growth, between birth and age two years, in infants born small-for-gestational-age (SGA) is a risk factor for the development of cardiometabolic diseases in adulthood. The basis and mechanisms underpinning catch-up growth in SGA newborns are unknown.Objectives: We aimed to investigate the catch-up predictive ability of cord blood miRNAs in SGA infants.Methods: MicroRNA PCR Human Panels were used to study ...

hrp0089p1-p098 | Fat, Metabolism and Obesity P1 | ESPE2018

Placental Fatty Acid Profile, DNA Methylation and Adverse Metabolic Outcomes in the Offspring at School Age

Bassols Judit , Xargay-Torrent Silvia , Mas-Pares Berta , Lizarraga-Mollinedo Esther , Prats-Puig Anna , Bonmati Alexandra , Martinez-Calcerrada Jose-Maria , Zegher Francis de , Ibanez Lourdes , Lopez-Bermejo Abel

Background: The placenta plays a key role in regulating fatty acid (FA) transport from maternal to fetal circulation. An unfavourable FA profile in the placenta, reflecting an inadequate nutritional status during pregnancy, may cause changes in placental DNA methylation and negatively affect fetal growth and metabolic health of the offspring.Objectives: We aimed to study the association of an unfavourable placental FA profile with placental DNA methylati...

hrp0082p2-d1-366 | Fat Metabolism & Obesity | ESPE2014

Uric Acid and Risk for Atherosclerotic Disease Early in Life

Bassols Judit , Martinez-Calcerrada Jose-Maria , Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Osiniri Ines , Riera-Perez Elena , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel

Background: Increased uric acid is an independent risk factor for cardiovascular disease in obese adults and adolescents. The relationship between uric acid and atherosclerotic risk early in life is unknown.Objective and hypotheses: We investigated whether uric acid relates to carotid intima–media thickness (cIMT), a marker of preclinical atherosclerosis, in a rather large sample of school-age children and investigated the interaction of obesity sta...

hrp0094p2-237 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Placenta n-6/n-3 PUFA ratio is associated with visceral adiposity and cardiovascular risk in the offspring at 6 years of age

Gomez-Vilarrubla Ariadna , Mas-Pares Berta , Carreras-Badosa Gemma , Bonmati Alexandra , Martinez-Calcerrada Jose-Maria , Puerto-Carranza Elsa , de Zegher Francis , Ibanez Lourdes , Lopez-Bermejo Abel , Bassols Judit ,

Background and Aims: Long chain polyunsaturated fatty acids (LC-PUFA) are essential nutrients for the development of the fetus and are supplied by the mother through the placenta. Omega-6 arachidonic acid (AA) and both omega-3 eicosapentaenoic acid (EPA) and docoshexaenoic acid (DHA) stand out for their functional roles. Recent studies show that the concentrations of these fatty acids in maternal blood and umbilical cord are associated with adiposity in the of...

hrp0086p2-p291 | Diabetes P2 | ESPE2016

The Story of a de novo Heterozygous HNF1A Mutation

Ponmani Caroline , Banerjee Kausik

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

hrp0082p2-d3-477 | Hypoglycaemia | ESPE2014

Opioid-Induced Endocrinopathy in a Toddler with Chronic Codeine Intoxication

Van Aken Sara , Van Der Straaten Saskia , De Waele Kathleen , Cools Martine , Craen Margarita , De Schepper Jean

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...

hrp0086p1-p689 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Novel Germline Mutations in DICER1 Gene in Patients with Different Pediatric Hereditary Tumors

Marino Roxana , Galeano Jesica , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Costanzo Mariana , Herzovich Viviana , Dujovne Noelia , Lubieniecki Fabiana , De la Rosa Laura , Obregon Gabriela , Chantada Guillermo , Aurelio Marco Rivarola , Belgorosky Alicia

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...

hrp0094p2-98 | Bone, growth plate and mineral metabolism | ESPE2021

BUR-CL207: An Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Pediatric Patients from Birth to Less than 1 Year of Age with XLH.

Padidela Raja , Cheung Moira , Allgrove Jeremy , Bacchetta Justine , Semler Oliver , Heubner Angela , Schnabel Dirk , Emma Franceso , Nilsson Ola , Hogler Wolfgang , De La Cerda Ojeda Francisco , Quattrocchi Emilia , Linglart Agnes ,

Background: X-linked hypophosphatemia (XLH) is caused by mutations in PHEX which increases serum Fibroblast Growth Factor 23 (FGF23) concentrations leading to phosphate wasting and osteomalacia. Burosumab is a recombinant fully human IgG1 monoclonal antibody which selectively inhibits the activity of FGF23. In clinical trials burosumab demonstrated significant clinical improvements in radiological rickets severity, growth, and biochemistry among XLH c...