hrp0082fc11.1 | Pituitary | ESPE2014

Abnormal Sonic Hedgehog Signalling in Adamantinomatous Craniopharyngiomas and its Association with CTNNB1/β-Catenin Mutations

Gomes Debora C , Jamra Soraya A , Leal Leticia F , Colli Leandro M , Juca Carlos E , Campanini Marina L , Oliveira Ricardo S , Martinelli Carlos E , Elias Paula C L , Saggioro Fabiano , Machado Helio R , Moreira Ayrton C , Serafini Luciano N , Castro Margaret , Antonini Sonir R

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

hrp0094p2-423 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Diagnostic dilemma in a patient with central precocious puberty: Ovarian steroid cell tumor

Balki Hanife Gül , Ata Aysun , Karayazılı Ayşe Merve , Serin Gürdeniz , Koç Gonca , Özdemir Necmettin , Çelik Ahmet , Özen Samim , Gökşen Damla , Darcan Şükran

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

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...

hrp0092rfc4.3 | Fat Metabolism and Obesity Session | ESPE2019

Dysregulated Gene Expression Profile in Visceral Adipose Tissue of Juvenile Wistar Rats with Catch-Up Growth: Association with Fat Expansion and Metabolic Parameters

Lizárraga-Mollinedo Esther , Carreras-Badosa Gemma , Remesar Xavier , Xargay-Torrent Silvia , Mas-Parés Berta , Prats-Puig Anna , de Zegher Francis , Ibáñez Lourdes , López-Bermejo Abel , Bassols Judit

Background: Accelerated catch-up growth following intrauterine growth restriction increases the risk of developing visceral adiposity and metabolic syndrome. Animal models of growth restriction during gestation have been developed as a powerful tool to provide insight into the underlying molecular mechanisms thereof.Objective: To analyze the patterns of gene expression in the retroperitoneal adipose tissue of rats with i...

hrp0092p1-6 | Adrenals and HPA Axis | ESPE2019

Health status of children with Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency in the United Kingdom: results of a multi-centre cohort study

Bacila Irina-Alexandra , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriako Andreas , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S. Faisal , Krone Nils P

Introduction: Congenital adrenal hyperplasia (CAH) is associated with long-term health problems. However, little is known about co-morbidities and their onset in children and young persons (CYP).Objective: To establish the health status of CYP with CAH across the United Kingdom.Methods: A multi-centre prospective study recruited 102 patients with 21-hydroxylase deficiency targeting...

hrp0092p1-15 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The Overweight and Obesity Decrease the Growth Potential in Mexican Children and Adolescents

Miranda-Lora América Liliana , Espinosa-Espíndola Montserrat , López-González Desireé , Loyo Mariana-Sánchez-Curiel , Dies Pilar , Klünder-Klünder Miguel

Background: The bone age (BA) assess the skeletal maturity and determine the children linear growth. Mexican children have a slightly delay in skeletal maturity before 10 years, but they reach in mean a BA 1 year in advance at the end of the puberty. On the other hand, Mexico has a high prevalence of childhood obesity and the adiposity has been associated with the BA advance in other populations. For the above, the overweight and obesity could be impact in the...

hrp0092p1-56 | Fat, Metabolism and Obesity | ESPE2019

Carotid Intima-Media Thickness Relates Rather to Epicardial and Perirenal Fat than Total Body Adiposity in Apparently Healthy Children

Prats-Puig Anna , Xargay-Torrent Silvia , Camós-Carreras Maria , Carreras-Badosa Gemma , Martinez-Calcerrada Jose-Maria , Riera Elena , deZegher Francis , Ibañez Lourdes , Bassols Judit , López-Bermejo Abel

Background: Carotid intima-media thickness (cIMT) is a well-known marker of subclinical atherosclerosis. The distribution of adipose tissue among visceral fat reservoirs rather than the total adipose tissue mass is more likely to be related to subclinical atherosclerosis.Objective: The aim of this study was to determine whether epicardial and perirenal fat are more related to cIMT than body adiposity in prepubertal child...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

hrp0092p1-335 | Fat, Metabolism and Obesity (2) | ESPE2019

The Relationship Between Serum Neurotensin Levels and Metabolic Parameters and Eating Behavior in Obese Children

Tuncerler Gülten , Özyurt Gonca , Uzun Hamide , Çalan Özlem Gürsoy , Küme Tuncay , Dündar Bumin Nuri , Çatli Gönül

Introduction: Neurotensin is a 13 amino acid peptide with central and intestinal effects. It has been shown to decrease intestinal and gastric motility, increase the absorption of fat by regulating the release of pancreas and bile acid. In addition, it is reported that there is also an anorexigenic effect of the neurotensin released from the central nervous system. In the literature, conflicting results related to serum / plasma neurotensin levels were reporte...

hrp0092lb-20 | Late Breaking Posters | ESPE2019

Introduction of Flash Glucose Monitoring in Children with Type 1 Diabetes: Experience of a Single-Centre in Spain

Leiva-Gea Isabel , Garcia Vázquez Javier , Rocío Liñán Jurado Francisca , Angel Maese Ruiz Miguel , Jiménez Hinojosa Jose , Pedro López-Siguero Juan

Flash glucose monitoring is now included in the Portfolio of Services of the Public Health System of Andalusia in Spain. We enrolled 145 paediatric T1D diabetes patients into a prospective, interventional study of the impact of the FreeStyle Libre system on HbA1c levels in this population, as well as additional measures of glycemic health, such as Time in Range (TIR) and Time Below Range (TBR). Subjects were trained in use of the FreeStyle Libre system at the start of the stud...