hrp0092fc6.1 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Bone Tissue Characterization of a Mouse Model of Atypical Type VI Osteogenesis Imperfecta Reveals Hypermineralization of the Bone Matrix, Elevated Osteocyte Lacunardensity and Altered Vascularity

Hedjazi Ghazal , Guterman-Ram Gali , Blouin Stéphane , Roschger Paul , Klaushofer Klaus , Fratzl-Zelman Nadja , Marini Joan C

Objectives: Osteogenesis imperfecta (OI) is an extremely heterogeneous connective tissue disorder characterized by low bone mass, which together with altered bone matrix properties leads to skeletal fragility. Due to the wide range of symptoms, the pathophysiology of the OI is not fully understood. Null mutations in SERPINF1, encoding the potent antiangiogenic factor PEDF, cause type VI OI with excessive osteoid formation, abnormal osteoblast-osteocyt...

hrp0092rfc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes

Malaquias Alexsandra C. , Noronha Renata M , Homma Thais K , Albuquerque Edoarda V A , Bertola Debora R , Jorge Alexander A L

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

hrp0092p3-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pseudohypoparathyroidism: Four Cases Reports

Bressiani Marina , Dall'Agnese Angélica , Godinho Adriana , Geremia César , Puñales Márcia

Introduction: Pseudohypoparathyroidism (PHP) is a rare disease, characterized by parathyroid hormone (PTH) resistance and it refers to different mineral disorders of bone metabolism, classified as PHP type 1a (Albright-OHA Hereditary Osteodystrophy), PHP1b and PHP1c (OHA).Four cases reports: Four children were identified as having PHP, being three of them female. PHP was diagnosed at six years of age (three cases) and at...

hrp0092p3-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Barakat Syndrome (HDR Syndrome): Case Report

Bressiani Marina , Dall'Agnese Angélica , Geremia César , Godinho Adriana , Camassola Bruna , Puñales Marcia

Introduction: Barakat Syndrome (HDR Syndrome) is characterized by hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R) caused by an autosomal dominant inheritance, being mostly associated to deletions in chromosome 10p14 or mutations in GATA3 gene.Case Report: A 9 years old male was admitted at an emergency complaining of upper and lower limbs pain and contractures that progressed with periodic tetany...

hrp0089fc1.5 | Adrenals &amp; HPA Axis | ESPE2018

Untargeted Plasma Metabolomics in Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies a Novel metabolic Signature

Nicolaides Nicolas C. , Ioannidi Maria-Konstantina , Koniari Eleni , Sertedaki Amalia , Klapa Maria I. , Chrousos George P. , Charmandari Evangelia

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...

hrp0089rfc2.4 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Novel Severe Skeletal Dysplasia with Under-Mineralisation Associated with Reduced In Utero Calcium Transport and TRPV6 Compound Heterozygous Variants

Bowen Philippa , Caswell Richard , Castle Bruce , Welch C Ross , Hilliard Tom , Smithson Sarah , Ellard Sian , Burren Christine

Background: Fetal skeletal bone development and mineralisation depends on placental calcium transfer. Although Parathyroid Hormone (PTH) pathway has some contribution, TRPV6 (the sixth member of the Transient Receptor Potential Vanilloid family) is a recently identified receptor involved in calcium transport and is predominantly expressed in the placenta. It has not previously been linked with skeletal development disorders.Case: This infant had...

hrp0086fc1.2 | Adrenals | ESPE2016

Transcriptomic Analysis in Healthy Subjects with Differences in Tissue Sensitivity to Glucocorticoids Identifies Novel Disease-associated Genes

Nicolaides Nicolas C. , Polyzos Alexandros , Koniari Eleni , Lamprokostopoulou Agaristi , Golfinopoulou Eleni , Papathanasiou Chryssanthi , Sertedaki Amalia , Thanos Dimitris , Charmandari Evangelia

Background: Glucocorticoids exert profound immune-modulating effects and regulate the expression of genes involved in cell cycle progression and apoptosis. Synthetic glucocorticoids are the most potent agents used in the treatment of inflammatory, autoimmune and lymphoproliferative disorders. Considerable variation in response to therapeutic doses of glucocorticoids exists among individuals, as evidenced by differences both in disease response and in the incidence of glucocort...

hrp0086rfc7.1 | Gonads &amp; DSD | ESPE2016

Tissue Engineered Collagen Based Tubular Scaffolds for Urethral Regeneration. A Novel Technology for the Surgical Treatment of VSD (Variation of Sex Development) Patients with Severe Hypospadias

Pinnagoda Kalitha , Larsson Hans M , Vythilingam Ganesh , Vardar Elif , Engelhardt Eva-Maria , Thambidorai Rajendrarao C , Hubbell Jeffrey A , Frey Peter

Background: Actual surgical procedures for the treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, are associated with frequent post-operative complications.Objective and hypotheses: Tissue engineered collagen tubes are a promising alternative.Method: We elaborated a new, two layered, collagen based tube that can be sutured. Mechanical testing proved a better resistance of those tubes co...

hrp0086p1-p483 | Fat Metabolism and Obesity P1 | ESPE2016

The Effectiveness of a Stress Management Intervention Program in the Management of Overweight and Obesity in Childhood and Adolescence

Stavrou Stavroula , Nicolaides Nicolas C. , Papageorgiou Ifigeneia , Papadopoulou Pinelopi , Terzioglou Eleni , Darviri Christina , Chrousos George P. , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century, and accounts for a significant increase in morbidity and mortality in adulthood. In addition to the increased consumption of calories and lack of exercise, accumulating evidence suggests that childhood obesity is strongly associated with prolonged and excessive activation of the stress system.Objective and hypotheses: The aim of our study was to assess the ...

hrp0082fc1.1 | Adrenal | ESPE2014

Molecular mechanisms of nongenomic glucocorticoid actions: the role of human glucocorticoid receptor S-palmitoylation

Nicolaides Nicolas C , Roberts Michael L , Kino Tomoshige , Katsantoni Eleni , Sertedaki Amalia , Chrousos George P , Charmandari Evangelia

Background: In humans, glucocorticoids (GCs) regulate a broad spectrum of physiologic functions, exerting both genomic and nongenomic actions through their ubiquitously expressed glucocorticoid receptor (hGR). The rapid nongenomic actions of GCs are likely to be mediated by membrane hGRs that transduce the glucocorticoid signal via activation of kinases. S-palmitoylation plays an important role in plasma membrane localization and occurs through a highly conserved nine amino ac...