hrp0097p2-285 | Late Breaking | ESPE2023

Combined treatment with leuprolide acetate and burosumab in X-linked hypophosphatemic rickets and precocious puberty: a therapeutic response

Tempone Cardoso Penna Gustavo , Michelle de Araújo Evangelista Nara , Costa Figueiredo Carolina , de Fátima Tonetto Fernandes Vânia , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , de Paula Colares Neto Guido

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

hrp0084p3-896 | Fat | ESPE2015

Prevalence of Excess Weight in Adolescents at Primary Health Care Units in South Brazil

Vargas Deisi Maria , de Medeiros Ana Carolina Santin , Klieman Elis , Eberhardt Isabel , Piesanti Vera Janete , Pasa Simone , da Silva Claudia Regina Lima Duarte , Coutinho Luciane Azevedo , Simao Vilma Margarete

Background: In the past decades Brazil has experienced a nutritional transition process characterised by a significant reduction in malnutrition and progressive increase in overweight and obesity. Nutritional education and precocious interventions are useful strategies to combat excess weight in childhood and adolescence. According to the World Health Organization (WHO), there were more than 40 million children overweight in the world in 2011. In Brazil, the prevalence of exce...

hrp0092p2-196 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Klinefelter Syndrome Associated with Short Stature Due to Iatrogenic Cushing

Machado Pinto Renata , Barbosa Julio , Mendes Arthur , Steinmetz Lucas , Cunha Damiana , Divino Da Cruz Aparecido

Introduction: Klinefelter syndrome (KS) is a form of aneuploidy resulting from 2 or more X chromosomes in a male. The most common karyotype is 47, XXY. KS affects physical and intellectual development to varying degrees, commonly causing hypo-development of secondary sexual characters and high stature.Case Report: JLV, male, 3 year 1 month age, the first child of a young non-consanguineous couple, was referred to the ped...

hrp0086p2-p848 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth of Children Born Preterm During the First 8 Years of Life

Cardoso-Demartini Adriane , da Silva Regina Cavalcante , de Lara Francisca , Boguszewski Margaret

Background: Approximately 15 million children are born preterm worldwide yearly.Objective and hypotheses: To evaluate spontaneous growth during the first 8 years of life.Hypotheses: Preterm born children have spontaneous recovery of weight and height in the first 8 years of life.Method: Measurements at birth, 6, 12 and 24 months of corrected age and at recall [6.4±0.5 years (5.2–8.0)]. Weight, lengt...

hrp0084p3-1012 | Growth | ESPE2015

Case Report of Wolf-Hirschhorn Syndrome by Chromosomal Microarray Analysis: Importance of the Molecular Investigation for the Aetiological Diagnosis of Short Stature

Pinto Renata , Pinto Irene , Minasi Lysa , Cunha Damiana , Ribeiro Cristiano , Silva Claudio , Cruz Aparecido

Background: Growth is a complex process influenced by several genetic factors both pre and postnatal, in which 80% of the height variation is explained by genetic factors. Nevertheless, the standard medical evaluation of short stature (SS) relies upon physical examination and laboratory parameters and identifies a pathological cause of SS in 1–40% of individuals. Recent advances in genetic diagnosis are revolutionizing the clinician’s ability to obtain a molecular di...

hrp0094p2-305 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Anastrozole improves height prediction and near final height as monotherapy or in combination with growth hormone

Machado Pinto Renata , de Almeida Debora Ribeiro , Vitor Percussor Silva Joao ,

Introduction: The wide aromatization of androgens during puberty is responsible for the rapid bone maturation at this age. In this context, the use of aromatase inhibitors (AIs) has been justified by the potential to slow down the advancement of bone age and thus improve growth. For more than two decades, studies have pointed out the validity of AIs to improve the predicted final height (PFH). However, data on near-final height (NFH) of children treated with A...

hrp0082p3-d1-925 | Puberty and Neuroendocrinology | ESPE2014

The Timing and Evolution of Puberty in a Sample of School-Aged Children in a Brazilian City

Feibelmann Taciana Carla Maia , da Silva Adriana Paula , Silva Daniela Cristina , de Resende Elisabete Aparecida Mantovani Rodrigues , Scatena Lucia Marina , de Fatima Borges Maria

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

hrp0098p1-269 | Growth and Syndromes 4 | ESPE2024

Effect of treatment with Isotretinoin on early bone maturation: A Case Report

Scheidemantel Aline , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , de Lima Carlesso Gabriela , Ricardo Azevedo Silva João , da Silva Almeida Karina , Cardoso-Demartini Adriane

Introduction: Isotretinoin is used for treatment of dermatological diseases, such as severe acne. It’s also recommended for treatment of high-risk neuroblastoma and pediatric medulloblastoma, but in these cases higher doses are necessary.Case report: A 12-year-old male patient with poorly differentiated embryonal origin carcinoma in the posterior fossa and implants in the neuroaxis. Next-generation sequencing genet...

hrp0086p1-p45 | Adrenal P1 | ESPE2016

Polymorphisms Analyze in Gene CYP21A2 Gene Associated with Congenital Adrenal Hyperplasia

Jorgens Prado Mayara , Maria Dornelles da Silva Claudia , Grandi Tarciana , Martins de Castro Simone , Kopacek Cristiane , Lucia Rosa Rossetti Maria

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

hrp0098fc15.3 | Late Breaking | ESPE2024

Assessment of actionable secondary genetic findings in a large cohort of children with short stature

Carneiro Rezende Raissa , Liberatoscioli Menezes de Andrade Nathalia , de Polli Cellin Laurana , Maria Santillan Ana , da Cunha Scalco Renata , Augusto de Lima Jorge Alexander

Introduction: Genetic investigation in patients with short stature allows diagnostic definition and impacts therapeutic decisions, clinical follow-up, and genetic counseling. That said, next-generation sequencing has created a new clinical challenge by allowing the identification of findings unrelated to the complaint that prompted testing. The ACMG published a list of actionable incidental findings that includes genes whose variants should be reported to pati...