hrp0097p2-293 | Late Breaking | ESPE2023

Unveiling the Complexities of Growth Failure: A Captivating Case of Short Stature with Coexisting Chronic Conditions

Pascu Bogdan , Bocai Raluca , Anton Patricia

Background: Short stature is a common presentation in pediatric endocrinology and its etiologies encompass non-endocrine factors, endocrine disorders, and normal variations. Growth failure can serve as an alarmingly subtle indicator of underlying severe diseases, sometimes obfuscating multiple causative factors. Understanding the complexities involved in evaluating growth failure in the presence of chronic conditions is crucial for efficient management. This c...

hrp0097fc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Rezende Raissa , Schafer Evan , Kaisinger Lena , He Wen , Andrade Nathalia , Dantas Naiara , Cellin Laurana , Quedas Elisangela , Perry John , Howard Sasha , Claudia Latronico Ana , Chan Yee-Ming , Jorge Alexander

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

hrp0092rfc13.6 | Adrenals and HP Axis | ESPE2019

Inhibitory Effects of Curcuminoids on the Enzymes from the Steroidogenic Pathway

Rodríguez Castaño Patricia , Pandey Amit V

Background: Turmeric is a popular ingredient in the cuisine of many Asian countries. It is also known for its use in Chinese and Ayurvedic medicine. It comes from the root of the Curcuma longa. Turmeric is rich in curcuminoids, including curcumin, demethoxycurcumin, and bisdemethoxycurcumin. Curcumin has potent anti-inflammatory and anti-carcinogenic activities. Since many anti-cancer drugs target enzymes from the steroidogenic pathway, we tested the bioactivi...

hrp0092p1-152 | Thyroid | ESPE2019

Thyroid Function Following Hemithyroidectomy in a Pediatric Cohort

Papendieck Patricia , Masnata Maria Eugenia , Bergada Ignacio , Chiesa Ana

Background: Studies about thyroid function following hemithyroidectomy are scarce in the literature and no studies include pediatric population.Objective: To describe thyroid function in pediatric patients who underwent a hemithyroidectomy.Design: Retrospective cohort study.Patients and Methods: Among the 38 patients who underwent hemithyroid...

hrp0089p1-p229 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Prevalence of Hypogonadism in Prepubertal Boys with Cryptrochdism

Grinspon Romina P , Bedecarras Patricia , Gottlieb Silvia , Rey Rodolfo A

Introduction: Cryptorchidism has usually been managed using a surgical approach, with little attention to the underlying pathophysiology.Objectives: To assess gonadal function before treatment in prepubertal boys with cryptorchidism.Methods: In a cross-sectional study we reviewed all clinical charts of patients encoded with the diagnosis of cryptorchidism in the database of a paediatric tertiary hospital, between 2000 and 2017. Inc...

hrp0082p2-d1-322 | Diabetes | ESPE2014

Quality of Life and Glycaemic Assessment Before and After Pump School

Leahy Patricia , O'Toole Norma , O'Connell Susan , O'Riordan Stephen

Background: Childhood type 1 diabetes (T1DM) is associated with poor quality of life and significant family burden. Children, parents, extended family members and teachers were invited to a novel 2 day structured educational programme, ‘Pump SchooI’, delivered by a Consultant Led multidisciplinary team. Each Pump School included two age-matched children.Objective and hypotheses: To evaluate the effect of continuous s.c. insulin infusion (CSII) ...

hrp0095p1-111 | Growth and Syndromes | ESPE2022

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Collett- Solberg Paulo , Gomes Nathalia , Scalco Renata , Dantas Naiara , Rezende Raissa , Tiburcio Angelica , Souza Micheline , Freire Bruna , Krepischi Ana , Longui Carlos , Lerario Antonio , Arnhold Ivo , Jorge Alexander , Vasques Gabriela

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

hrp0089p3-p318 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

SIG (Special Interest Group)-ENDOPED/RUTE (Brazil): Seven Years Integrating Pediatric Endocrinology Centers throughout the Country

Arrais Ricardo Fernando , Alves Cresio Aragao Dantas , Junior Gil Guerra , Castro Luiz Claudio Goncalves , Filho Geraldo Miranda Graca , Kopacek Cristiane , Damiani Durval , Junior Raphael Del Roio Liberatore , Punales Marcia Khaled

Introduction: Telemedicine, or the use of CIT (Communication and Information Technology) to deliver and/or share medical remote assistance and knowledge, is of paramount importance, mainly in large countries, with social and economic disparities, as Brazil, by means of teleconferences, webconferences, webcasts and use of a wide range of interactive technologies, helping activities of assistance and professional health education. One of the activities provided by our RUTE (Univ...

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

hrp0094fc6.1 | Bone and Mineral Metabolism | ESPE2021

Evaluation of the potential benefits of biphosphonate treatment on symptomatic vertebral fractures in children treated for acute lymphoblastic leukemia

Diaz Escagedo Patricia , Fiscaletti Melissa , Di Ioia Rose , Perrault Melissa , Olivier Patricia , Dubois Josee , Miron Marie-Claude , Laverdiere Caroline , Hoa Tran Thai , Alos Nathalie ,

Background and Aim: Vertebral fractures (VF) in children with acute lymphoblastic leukemia (ALL) are often symptomatic and impairing life quality. Prevalence of children with VF at ALL diagnosis has been reported as 16% with peak incidence occurring during the first year after diagnosis and a 6-year cumulative incidence of 32.5%. Moreover, only 15.8% of these patients will have vertebral reshaping 24 months after ALL diagnosis. Additionally, 23% of ALL survivo...