hrp0098p2-384 | Late Breaking | ESPE2024

Incidence study of central precocious puberty in the population of goiás-brazil: the covid-19 pandemic has changed epidemiology.

Machado Pinto Renata , Luz Castelo Branco De Souza Gabriela , Moraes Magalhães Gustavo , Gelinski Isabely , Felipe Macedo Silva Luiz , Pereira Pinto Roney

Introduction: An increase in the number of cases of central precocious puberty (CPP) was observed in outpatient clinics in various centers around the world during the COVID-19 pandemic. It is believed that the adoption of specific social behaviors, and the virus infection itself may have influenced the increase in cases of CPP.Objective: To analyze the epidemiology and clinical characteristics of cases of CPP in the stat...

hrp0086p1-p821 | Syndromes: Mechanisms and Management P1 | ESPE2016

Case Report of 48,xxyy Syndrome Associated to Father’s Radioactive Contamination During the Cesium Accident in Goiânia – Goiás, Brazil

Pinto Renata Machado , Cunha Damiana Mirian , Ribeiroi Cristiano Luiz , da Silva Claudio Carlos , da Cruz Aparecido Divino

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

hrp0089p3-p251 | Growth & Syndromes P3 | ESPE2018

Mosaicism 47XXX/45X0, a Case Report

Pinto Renata Machado , Duarte Sabrina Sara Moreira , Cunha Damiana Miriam da Cruz e , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da , Cruz Alex Silva da

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

hrp0089rfc10.4 | Late Breaking | ESPE2018

Comparative Analysis between Immunoassay and Tandem Mass Spectrometry for Androgens before and after Human Recombinant Gonadotrophin in Children with Genital Ambiguity and 46,XY Karyotype

Oliveira Leticia , Guerra-Junior Gil , Longui Carlos , Guaragna-Filho Guilherme , Costa Jose Luiz , Lanaro Rafael , Silva David , Mello Maricilda , Maciel-Guerra Andrea , Morcillo Andre

Liquid chromatography associated with tandem mass spectrometry (LC-MS/MS) is currently considered the gold standard for steroid measurement. The aim of this study was to compare traditional immunoassay and LC-MS/MS methods for androgens measurement before and after human recombinant chorionic gonadotrophin (hrCG) stimulation in children with diagnosis of disorder of sex development (DSD) with 46,XY karyotype and past of normal testosterone secretion. We evaluated 19 patients, ...

hrp0097p2-283 | Late Breaking | ESPE2023

Evaluation of body composition in Brazilian children and adolescents with X-linked hypophosphatemic rickets

de Paula Colares Neto Guido , Maria Rodrigues Pereira Rosa , Takayama Liliam , Ferreira de Assis Funari Mariana , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , Matsunaga Martin Regina

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

hrp0089p2-p263 | Growth &amp; Syndromes P2 | ESPE2018

Genetic Investigation of SHORT Stature: A Case Report of Complex Constitutive Rearrangement Involving Chromosome 15

Pinto Renata Machado , Minasi Lysa Bernardes , Pinto Irene Plaza , Silva Juliana Ferreira da , Cunha Damiana Mirian da Cruz , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da

Introduction: 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. Rearrangements affecting chromosome 15 are rare and affected patients show a variety of nonspecific features...

hrp0089p1-p137 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Neonatal Screening Tests in Premature Newborns in Southern Brasil

Furtado Ivy Hulbert Falcao , Kraemer Gabriela Carvalho , de Lima Marcella Rabassi , Domingos Mousseline Torquato , Pereira Rosana Marques , Cat Monica Nunes Lima , De Lacerda Luiz , da Silva Regina Paula Guimaraes Vieira Cavalcante , Sarquis Ana Lucia Figueiredo , Nesi-Franca Suzana

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

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 ...

hrp0092s9.3 | Heterogeneity of Paediatric Diabetes | ESPE2019

Obesity Distorting Childhood Diabetes: Is it Type 2, Type 1, or MODY? A Pathophysiological Perspective

Arslanian Silva

There are modifiable and unmodifiable risk factors for youth type 2 diabetes (T2DM). Unmodifiable risk factors include genetics/epigenetics, minority race/ethnicity, and puberty. The major modifiable risk factors for youth T2DM are obesity and lifestyle habits of excess nutritional intake and decreased energy expenditure. Thus, in making a clinical diagnosis of T2DM, the major diagnostic criterion, at least in North America and Europe, is overweight/obesity. However, with the ...

hrp0084s6.3 | Type 2 Diabetes &amp; Obesity | ESPE2015

From Obesity to Type 2 Diabetes

Arslanian Silva

With the ever escalating trajectory of childhood obesity, rates of prediabetes and type 2 diabetes (T2DM) are on the incline. Impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT) constitute a state of prediabetes with high risk for the development of T2DM. Among U.S. adolescents 12–19 years of age, NHANES 2005–2006, the prevalence of IFG, IGT and prediabetes was 13.1, 3.4 and 16.1%, respectively. Overweight adolescents had a 2.6-fold higher rate tha...