hrp0092p1-258 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Novel Pubertal References for Girls Using Ultrasound to Stage Breast Development. The Bergen Growth Study 2

Bruserud Ingvid S. , Roelants Mathieu , Oehme Ninnie HB , Madsen André , Eide Geir Egil , Rosendahl Karen , Júlíusson Pétur B.

Background: Using ultrasound to examine the glandular breast tissue is a promising method for staging pubertal breast development. However, breast ultrasound for this purpose has not been explored in a large sample of healthy girls in different developmental stages, and normative data have been unavailable.Objective: To present novel pubertal references for breast ultrasound stages, Tanner breast (B) and pubic hair (PH) ...

hrp0092p1-398 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Postoperative Quality of Life in Children and Adolescents with Craniopharyngioma – Results of the Prospective Multicenter Trial KRANIOPHARYNGEOM 2007

Eveslage Maria , Calaminus Gabriele , Warmuth-Metz Monika , Kortmann Rolf-Dieter , Pohl Fabian , Timmermann Beate , Schuhmann Martin , Flitsch Jörg , Faldum Andreas , Müller Hermann L.

Background: Craniopharyngioma is an embryonic tumor of low-grade malignancy. Children and adolescents with this diagnosis are analyzed concerning quality of life (QoL) and (progression-free) survival within the project KRANIOPHARYNGEOM 2007.Methods: The prospective, multi-center project consists of a randomized, unblinded substudy with adaptive design and an observational study. The randomized substudy for incompletely r...

hrp0089fc1.6 | Adrenals & HPA Axis | ESPE2018

A Novel Stem Cell Model for the Triple A Syndrome

Da Costa Alexandra Rodrigues , Qarin Shamma , Bradshaw Teisha Y. , Watson David , Prasad Rathi , Barnes Michael R. , Metherell Louise A. , Chapple J. Paul , Skarnes William C. , Storr Helen L.

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0089rfc10.3 | Late Breaking | ESPE2018

Developmental Regulation of Obestatin and Adropin in Prader-Willi Syndrome and Non-Syndromic Obesity: Associations with Weight, BMI-z, HOMA-IR, and Lipid Profile

Orsso Camila E , Butler Andrew A , Muehlbauer Michael J , Cui Huaxia N , Rubin Daniela A , Pakseresht Mohammadreza , Butler Merlin G , Prado Carla M , Freemark Michael , Haqq Andrea M

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...

hrp0089rfc11.5 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

The Determinants of Skeletal Fragility in Children with Type 1 Diabetes Mellitus

Chen Suet Ching , Shepherd Sheila , McMillan Martin , McNeilly Jane , McComb Christie , Foster John , Robertson Kenneth J , Wong Sze Choong , Ahmed S Faisal

Background: The pathophysiology of the increased fracture risk in Type 1 Diabetes Mellitus (T1DM) remains unclear.Objectives: Perform multimodality assessment to determine the effects of T1DM on bone health and fractures.Methods: Thirty-two children with T1DM at a median (range) age of 13.7 years (10.4, 16.7), and median HbA1c 65mmol/mol (27,100) were recruited. Serum bone alkaline phosphatase (BAP) and c-terminal telopeptide type ...

hrp0086fc5.1 | Management of Disorders of Insulin Secretion | ESPE2016

The Anti-diabetic Drug, Metformin, Suppresses Adipogenesis through both AMP-activated Protein Kinase (AMPK)-dependent and AMPK-independent Mechanisms

Chen Suet Ching , Brooks Rebecca , Houskeeper Jessica , Bremner Shaun K , Dunlop Julia , Viollet Benoit , Salt Ian P , Ahmed S Faisal , Yarwood Stephen J

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

hrp0086fc13.3 | Management of Obesity | ESPE2016

Hypothalamic Gliosis in Obese Children and Adolescents

Sewaybricker Leticia E , Cendes Fernando , Schur Ellen A , Melhorn Susan J , Barbosa Silene M , Mendes Roberto T , Velloso Licio A , Guerra-Junior Gil

Background: Obesity is a persistent disorder that almost universally recurs following treatment, suggesting a disruption on central nervous system control over energy homeostasis. Recent literature suggests that hypothalamic inflammation may have an important role on obesity pathogenesis. This inflammatory reaction, which histologically appears as a reactive gliosis, may be detected using magnetic resonance imaging (MRI), and has just been shown in rodent models and adults.</p...

hrp0086fc14.4 | Growth : Mechanisms | ESPE2016

Preferential Paternal Transmission of the T Allele for the rs1802710 Polymorphism In Dlk1 Gene as a Pre- and Postnatal Growth Regulator

Prats-Puig Anna , Carreras-Badosa Gemma , Xargay-Torrent Silvia , Petry Clive J , Redondo-Bautista Lara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: DLK1 or PREF1 is an imprinted gene highly expressed from the paternal allele in embryonic tissues and placenta. It has been recently implicated in adipose tissue expansion and diabetes development. The human rs1802710 polymorphism (SNP) in DLK1 gene has been associated with early-onset extreme obesity but its role determining growth is unknown.Objective and hypotheses: To study the preferential paternal transmission...

hrp0086fc14.5 | Growth : Mechanisms | ESPE2016

Preferential Transmission of the Paternal C Allele of the rs9373409 Polymorphism in plagl1 Gene as a Regulator of Fetal Growth and Maternal Metabolism

Prats-Puig Anna , Carreras-Badosa Gemma , Diaz-Roldan Ferran , Petry Clive J , Maldonado-Moreno Clara , de Zegher Francis , Bassols Judit , Ibanez Lourdes , Dunger David B , Lopez-Bermejo Abel

Background: The phenotypic effects of single nucleotide polymorphisms (SNPs) may depend on their parental origin. PLAGL1 is an imprinted gene expressed from the paternal allele in placenta that is associated with fetal growth, transient neonatal diabetes mellitus and postnatal growth disorders. The mechanisms whereby PLAG1 regulates fetal growth are, however, unknown.Objective and hypotheses: To study if the preferential paternal transm...