hrp0089rfc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement

Mantovani Giovanna , Bastepe Murat , Monk David , de Sanctis Luisa , Thiele Susanne , Usardi Alessia , Ahmed Faisal , Bufo Roberto , Choplin Timothee , DeFillipo Gianpaolo , Devernois Guillemette , Eggermann Thomas , Elli Francesca M , Freson Kathleen , Ramirez Aurora Garcia , Germain-Lee Emily , Groussin Lionel , Hamdy Neveen , Hanna Patrick , Hiort Olaf , Juppner Harald , Kamenicky Peter , Knight Nina , Kottler Marie-Laure , Le Norcy Elvire , Lecumberri Beatriz , Levine Michael A , Makiti Outi , Martin Regina , Martos-Moreno Gabriel Angel , Minagawa Masanori , Muray Philip , Pereda Arrate , Pignolo Roberto , Rejnmark Lars , Rodado Rebecca , Rothenbuhler Anya , Saraff Vrinda , Shoemaker Ashley , Shore Eileen M. , Silve Caroline , Turan Serap , Woods Philip , Zillikens M. Carola , de Nanclares Guiomar Perez , Linglart Agnes

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseous heteroplasia refer to heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, stocky build, subcutaneous ectopic ossifications, as well as laboratory abnormalit...

hrp0084p2-447 | Growth | ESPE2015

SHOX Mutation Spectrum in an Unbiased Cohort of 585 Patients Referred for Leri-Weill Dyschondrosteosis or Idiopathic Short Stature

Belinchon Alberta , Benito-Sanz Sara , de la Torre Carolina , Barreda-Bonis Ana C , Gonzalez-Casado Isabel , Heath Karen E

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

hrp0094p2-208 | Fat, metabolism and obesity | ESPE2021

OSAS in childhood obesity is a more frequent and earlier complication than expected

Deiana Giuseppina , Maltoni Giulio , Zucchini Stefano , Gallucci Marcella , Levi della Vida Francesca , Barberi Carolina , Pession Andrea , Cassio Alessandra ,

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

hrp0084p1-8 | Adrenal | ESPE2015

Cortisol:Cortisone Ratio and Metalloproteinase 9 Emerging as Risk Factors Associated with Paediatrics Hypertension

Martinez-Aguayo Alejandro , Campino Carmen , Baudrand Rene , Carvajal Cristian , Pinochet Constanza , Garcia Hernan , Bancalari Rodrigo , Tapia Alejandra , Garcia Lorena , Loureiro Carolina , Mendoza Carolina , Vecchiola Andrea , Valdivia Carolina , Fuente Cristobal , Lagos Carlos , Grob Francisca , Solari Sandra , Allende Fidel , Kalergis Alexis , Fardella Carlos

Background: Paediatric hypertension is increasing and has been associated with obesity and insulin resistance. Recently, cortisol:cortisone ratio and the metalloproteinase 9 (MMP9), which is a marker of vascular remodelling, have been syndicated as new risk factors associated with hypertension.Objective and hypotheses: To analyse the association between paediatric hypertension with clinical, biochemical, inflammation, and vascular remodelling biomarkers<...

hrp0098rfc5.6 | Growth and Syndromes | ESPE2024

Pubertal induction in girls with Turner syndrome – retrospective data from the International TS registry

Gawlik-Starzyk Aneta , Matthews Debbie , Błaszczyk Ewa , Brain Caroline , Öhman Kriström Berit , M McGlacken-Byrne Sinéad , Sas Theo , van der Velden Janielle , Verlinde Franciska , Wasniewska Malgorzata , Smith Arlen , Gawlik Jakub , Atapattu Navoda , Bertelloni Silvano , Binder Gerhard , Cheetham Tim , L Claahsen-van der Grinten Heidi , M O'Connell Susan , Cools Martine , Dirlewanger Mirjam , Elsedfy Heba , A Baky Fahmy Mohamed , Fica Simona , E. Flück Christa , F Gevers Evelien , Globa Evgenia , Guazzarott Laura , Guven Ayla , E. Hannema Sabine , Herrmann Gloria , Howard Sasha , Iotova Violeta , Januś Dominika , Konrad Daniel , Krone Nils , Kyrilli Aglaia , Leka-Emiri Sofia , Marginean Otilia , Markosyan Renata , Niedziela Marek , Nordenstrom Anna , Obara - Moszynska Monika , Poyrazoglu Sukran , Probst Ursina , Rohayem Julia , Russo Gianni , Šandrk Beslać Marija , Schwitzgebel Valerie , Nimali Seneviratne Sumudu , Shenoy Savitha , Starzyk Jerzy , Tourlamain Gilles , Lenherr Taube Nina , Ucar Ahmet , Utari Agustini , Wędrychowicz Anna , Wojtyś Joanna , Zainaba Mohamed , Bryce Jillian , Chen Minglu , Koley Sanhita , Alimussina Malika , N.S. Matthews John , Faisal Ahmed Syed , D.C. Donaldson Malcolm

Background: Current guidelines for girls with gonadal dysgenesis due to Turner Syndrome (TS) recommend initiating estrogen therapy at 11-12 years of age, using 'natural' 17-β estradiol. However, there is scant evidence regarding the optimal modality of induction, particularly concerning whether oral or transdermal routes are more effective or acceptable.Aim: To retrospectively evaluate differences in puber...

hrp0095rfc3.3 | Early Life and Multisystem Endocrinology | ESPE2022

Analysis of A Series of Italian Apeced Patients with Autoimmune Liver Disease and Enteropathies

Fierabracci Alessandra , Cappa Marco , Pietrobattista Andrea , Felicia Faienza Maria , Capalbo Donatella , Valenzise Mariella , Lampasona Vito , Pagliarosi Olivia , Carbone Elena , Carolina Salerno Maria , Betterle Corrado

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

hrp0095rfc11.4 | Late Breaking | ESPE2022

Are GnRH agonists beneficial in final adult height after 8 years old? Data from a Portuguese National Digital Platform of idiopathic Central Precocious Puberty

Espada Filipa , Castro Carolina , Luisa Leite Ana , Galo Elisa , Antunes Ana , Castro Sofia , Robalo Brigida , Amaral Daniela , Ferreira Sofia , Limbert Catarina

Objective: Central precocious puberty (CPP) is a common condition in pediatric endocrinology practice. Gonadotropin-releasing hormone agonists (GnRHa) treatment is safe, but the real effect on final height and the ideal timing for treatment remains controversial. The purpose of the authors was to evaluate a nationwide representative group of CPP Portuguese girls treated with GnRHa, assess the effectiveness of treatment and the growth outcome before and after 8...

hrp0095p1-116 | Growth and Syndromes | ESPE2022

Clinical and biochemical parameters of puberty onset in children with Silver Russell syndrome and children born small for gestational age

Patti Giuseppa , Malerba Federica , Scaglione Marco , Schiavone Maurizio , Grazia Calevo Maria , Varotto Carolina , Casalini Emilio , Fava Daniela , Allegri Anna , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...

hrp0092p1-97 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Familial Neurohypophyseal Diabetes Insipidus and 2 Novel Vasopressin Gene Mutations in 13 Italian Kindreds.

Patti Giuseppa , Scianguetta Saverio , Balsamo Antonio , Cappa Marco , Corbetta Sabrina , Gaudino Rossella , Iughetti Lorenzo , Salerno Maria Carolina , Napoli Flavia , Peri Alessandro , Maghnie Mohamad , Perrotta Silverio , Di Iorgi Natascia

Background: Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is characterized by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII genePatients and Methods: We analyzed AVP-NPII gene in 13 kindreds with familial NDIAim: To describe the clinical and molecular features of Italian kindreds with adNDIResults</str...

hrp0092p1-338 | Fat, Metabolism and Obesity (2) | ESPE2019

Continuous Score of Metabolic Syndrome (sSMp) in Chilean Pediatric Population is Associated with Insulin Resistance Parameters and Subclinical Endothelial Inflammation

Loureiro Carolina , Cavada Gabriel , Bancalari Rodrigo , Vecchiola Andrea , Tapia Alejandra , Baudrand René , Campino Carmen , Carvajal Cristian , Fardella Carlos , Martíinez Alejandro , García Hernán

Introduction: The dichotomous nature of the definition of Metabolic Syndrome (MS) in both children and adults can under-diagnose subjects at risk and prevents adequate follow-up of therapeutic interventions. Recently, a continuous score of MS (sSMp) was validated in the pediatric population based on the IDF criteria for a population> 16 years.Objectives: To apply sSMp in a Chilean pediatric population cohort and corr...