hrp0089fc15.3 | Growth and Syndromes | ESPE2018

Methylation of the C19MC microRNA Locus in the Placenta: A Mechanism whereby Maternal Body Size Links to that of the Child

Xargay-Torrent Silvia , Prats-Puig Anna , Mas-Pares Berta , Bassols Judit , Petry Clive J , Girardot Michael , de Zegher Francis , Ibanez Lourdes , Dunger David B , Feil Robert , Lopez-Bermejo Abel

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspring’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

hrp0086p1-p739 | Pituitary and Neuroendocrinology P1 | ESPE2016

Evaluation of Puberty in Children with Sickle Cell Anemia: A Case Control Study in Yaounde, Cameroon

Mbono Betoko Ritha Carole , Sap Ngo Um Suzanne , Alima Yanda Anastasie , Chelo David , Ngo Sack Francoise , Tony Nengom Jocelyn , Simon Dominique , Chevenne Didier , Carel Jean Claude , Koki Ndombo Paul Olivier

Background: Puberty is reported to be impaired in children with Sickle cell Anemia (SCA). Studies about this topic are rare in Sub-Saharan regionObjective and hypotheses: Assessment of pubertal development of children with SCA compared to healthy children in Mother and Child Center, CHANTAL BIYA Foundation.Method: We matched a group of 64 children with SCA (26 males, 38 females) with 94 healthy controls aged of 8–17 years old....

hrp0084ha1 | Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration | ESPE2015

Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration

Howard Sasha , Guasti Leonardo , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Sternberg Michael , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Andre Valentina , Gothilf Yoav , Cariboni Anna , Dunkel Leo

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

hrp0084p2-530 | Puberty | ESPE2015

Nephrogenic Diabetes Insipidus with Partial Response to Ddavp Caused by a Novel AVPR2 Splice Site Mutation

Schernthaner-Reiter Marie Helene , Adams David , Nilsson Ola , Trivellin Giampaolo , Ramnitz Mary Scott , Raygada Margarita , Golas Gretchen , Faucz Fabio R. , Dileepan Kavitha , Lodish Maya B. , Lee Paul R. , Markello Thomas C. , Tifft Cynthia J. , Gahl William A. , Stratakis Constantine A.

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

hrp0097rfc4.4 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic findings in short Turkish children born to consanguineous parents

Joustra Sjoerd , Isik Emregul , M. Wit Jan , Catli Gonul , Anik Ahmet , Haliloglu Belma , Kandemir Nurgun , Ozsu Elif , Hendriks Yvonne , de Bruin Christiaan , Kant Sarina , Campos-Barros Angel , Challis Rachel , Parry David , Harley Margaret , Jackson Andrew , Losekoot Monique , van Duyvenvoorde Hermine

Objective: To describe clinical, laboratory and genetic characteristics of 42 short children from 34 consanguineous Turkish families.Design: Descriptive case series.Methods: After collecting clinical information, DNA samples were analysed in three European laboratories. In 18 children (12 families) suspected of a genetic defect in the growth hormone (GH)-insulin-like growth factor ...

hrp0098fc9.3 | Sex Endocrinology and Gonads | ESPE2024

Prenatal exposure to paracetamol is associated with reduced uterine volume at infancy - A COPANA Cohort study of 302 healthy girls

Bistrup Fischer Margit , Mola Gylli , Scheel Lone , Bak Wraae Katrine , Lilleøre Rom Ane , Frederiksen Hanne , A Anderson Richard , Møbjerg Kristensen David , Andersson Anna-Maria , Kristine Hegaard Hanne , Juul Anders , P Hagen Casper

Background: Paracetamol is the preferred analgesic and antipyretic during pregnancy. Experimental studies suggest that in-utero exposure to paracetamol disrupts ovarian follicle formation and future ovarian function. This may secondarily affect uterine growth. Female minipuberty is characterized by HPG activity and follicle maturation, however individual levels of reproductive hormones fluctuate considerably.Primary Aim:...

hrp0098fc6.4 | Fat, Metabolism and Obesity 1 | ESPE2024

Relaxation of Food Control Parameters Based on Improvements in the Food Safe Zone Questionnaire Occurs with Reduction of Hyperphagia in Clinical Trials of Diazoxide Choline Extended Release (DCCR) in Participants with Prader-Willi Syndrome

Bridges Nicola , Gevers Evelien , Yanovski Jack , Salehi Parisa , Hall Shoemaker Ashley , Abuzzahab Jennifer , Obrynba Kathryn , Fleischman Amy , Stevenson David , Wilding John , Mathew Verghese , Viskochil David , Felner Eric , E. McCandless Shawn , Bird Lynne , Lah Melissa , Littlejohn Elizabeth , Shea Heidi , Holland Anthony , Goldstone Anthony , Barrett Timothy , Konczal Laura , Dharmaraj Poonam , Das Urmi , Angulo Moris , Kimonis Virginia , Guftar Shaikh Mohomad , Mejia-Corletto Jorge , Yen Kristen , Gandhi Raj , Ballal Shaila , Hirano Patricia , Cowen Neil , Bhatnagar Anish , Huang Michael , Butler Merlin , Miller Jennifer

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. With no approved therapies to treat hyperphagia, disease management requires strict dietary and environmental controls to restrict access to food. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The obje...

hrp0098fc11.4 | Fat, Metabolism and Obesity 2 | ESPE2024

Long-term Efficacy Results of Diazoxide Choline Extended-Release (DCCR) Tablets in Participants with Prader-Willi Syndrome from the Completed C601 (DESTINY PWS) and C602 Open Label Extension (OLE) Studies

Gevers Evelien , Bridges Nicola , Yanovski Jack , Felner Eric , Salehi Parisa , Hall Shoemaker Ashley , Fleischman Amy , Goldstone Anthony , Angulo Moris , Stevenson David , Obrynba Kathryn , Guftar Shaikh M , Holland Anthony , Mathew Verghese , Viskochil David , E. McCandless Shawn , Bird Lynne , Lah Melissa , Kimonis Virginia , Abuzzahab Jennifer , Konczal Laura , Littlejohn Elizabeth , Shea Heidi , Dharmaraj Poonam , Das Urmi , Mejia-Corletto Jorge , Wilding John , Harwood Katerina , Yen Kristen , Gandhi Raj , Gong Jing , Hirano Patricia , Cowen Neil , Bhatnagar Anish , Huang Michael , Butler Merlin , Miller Jennifer

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. No approved therapies exist for treating hyperphagia in patients with PWS. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The objective was to determine the efficacy of investigational DCCR on hyperphag...

hrp0092fc9.3 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

DNA Methylation Signatures in Placenta and Umbilical Cord: Association with Maternal Obesity

Mas-Pares Berta , Xargay-Torrent Silvia , Gomez-Vilarrubla Ariadna , Lizarraga-Mollinedo Esther , Martínez-Calcerrada Jose-María , Bonmatí-Santané Alexandra , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background and Objectives: Offspring born to obese mothers are at an increased risk of chronic disease including type 2 diabetes (T2D), obesity, hypertension, cardiovascular disease (CVD), non-alcoholic fatty liver disease (NAFLD) and chronic kidney disease (CKD). This metabolic programming is produced, in part, by epigenetic changes such us DNA methylation. We postulated that obesity exposure impacts the offspring's methylome and used an epigenomic approa...

hrp0095rfc4.6 | Fat, Metabolism and Obesity | ESPE2022

European Consortium of Lipodystrophies Registry, 2022

von Schnurbein Julia , Gambinieri Alessandra , Fernández-Pombo Antia , Akinci Baris , Vatier Camille , Cecchetti Carolina , Adiyaman Cem , Vigoroux Corrine , Araujo-Vilar David , Savage David , Gilio Donatella , Bismuth Elise , Sorkina Ekaterina , Vorona Elena , Santos Silva Ermelinda , Nobecourt Estelle , Csajbok Eva , Santini Ferrucio , Prodam Flavia , Nagel Gabriele , Aimaretti Gianluca , Latanzi Giovanna , Ceccarini Giovanni , Novelli Giuseppe , Yildirim Simsir Ilgin , Jeru Isabelle , Štotl Iztok , Carel Jean-Claude , Writzl Karin , Heldt Katrin , Miehle Konstanze , Kleinendorst Lotte , D’Apice Maria-Rosaria , Beghini Mariana , Vantyghem Marie-Christine , Broekema Marjoleine , Faßhauer Mathias , Stumvoll Michael , Sbraccia Paolo , Ozen Samim , Magno Silvia , Scherer Thomas , Daffara Thomaso , Pekkolay Zafer , Wabitsch Martin

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...