hrp0098p3-281 | Late Breaking | ESPE2024

Cleidocranial dysplasia associated with gh deficiency by auxological criterion: case report

Fernando Arrais Ricardo , Luiza Assunção Dantas Ana , Queiroz Dias do Nascimento Letícia , Saraiva Santos Silva Marina

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

hrp0089p3-p028 | Adrenals and HPA Axis P3 | ESPE2018

Discrete Virilization in Girls with the Classic Form of Congenital Adrenal Hyperplasia: the Importance of a Detailed Genital Examination at Birth

Santos Silva Chagas Leticia , Guerra-Junior Gil , Palandi De-Melo Maricilda , Helena Valente Lemos-Marini Sofia

Introduction: Differentiation of the external genitalia depends on serum androgen concentrations in the foetal life. The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (21OHD) is the most frequent cause of female genital ambiguity. It is an autosomal recessive disorder due to CYP21A2 mutations that are classified in groups based on their in vitro residual enzymatic activity. The phenotype usually is predicted by the less severe mutatio...

hrp0092p2-4 | Adrenals and HPA Axis | ESPE2019

Bone Age Advancement in Prepubertal Children with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: Premature adrenarche (PA) is usually define as the appearance of clinical signs of androgen action before the age of 8 years in girls and 9 years in boys, associated the serum DHEAS above 40µg/dl.Aims: 1) To characterize a population of prepubertal children with PA regarding birth weight, anthropometry, growth velocity, height difference, bone age, IGF1 and DHEAS. 2) To compare IgF1, bone age, growth v...

hrp0092p2-14 | Adrenals and HPA Axis | ESPE2019

Differences Between Normal-bmi Girls with Premature Adrenarche and Overweight or Obese Girls with Premature Adrenarche

Santos-Silva Rita , Costa Carla , Castro-Correia Cíntia , Fontoura Manuel

Introduction: There seems to be an undoubting, but still puzzling, relationship between obesity and premature adrenarche (PA).Aim: To characterize a population of prepubertal girls with PA and to compare girls with a normal body mass index (BMI) with girls who are overweight or obese, in what regards gestational age and birth weight, age at the referral, clinical signs, anthropometry, bone age and hormone profile.<p ...

hrp0089p3-p147 | Fat, Metabolism and Obesity P3 | ESPE2018

Bariatric Surgery as Treatment of Primary Pseudotumor cerebriin a Male Adolescent: Case Report

Ybarra Marina , Jeronimo dos Santos Tiago , Santos Queiroz Edjane , Rachid Ludmilla , Rocha Franco Ruth , Cominato Louise , Castelo Moura Frederico , Carlos Velhote Manoel , Damiani Durval

Introduction: Primary Pseudotumor cerebri (PPTC), also known as idiopathic intracranial hypertension, is clinically characterized by increased intracranial pressure in an alert and oriented patient, with no evidence of deformity or obstruction of the ventricular system on neuroimaging. Cerebrospinal fluid analysis is normal except for increased intracranial pressure at lumbar puncture, greater than the 90th percentile (28 cm of H2O) in the pediatric population. Papilledema may...

hrp0084p3-877 | Fat | ESPE2015

Higher Hb1Ac in Obese Prader-Willi Syndrome Patients vs Obese Controls

Passone Caroline , dos Santos Tiago Jeronimo , Ito Simone Sakura , Ybarra Marina , Cominato Louise , Franco Ruth , Damiani Durval

Background: Obesity in Prader-Willi Syndrome has peculiar features associated to reduced lean body mass which could confer different metabolic characteristics.Objective and hypotheses: The aim of this study is to describe and to compare the metabolic profile in obese patients and obese Prader-Willi syndrome patients (OPWS) followed in a Pediatric Endocrinology outpatient clinic.Method: 45 obese and 22 OPWS patients between 8 and 20...

hrp0082p3-d3-796 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Prevalence of Overweight and Obesity in Children and Adolescents at Public and Private Schools from Uberaba Brazil

Silva Adriana Paula , Feibelmann Taciana Carla Maia , Silva Daniela Cristina , Palhares Heloisa Marcelina Cunha , Scatena Lucia Marina , Borges Maria de Fatima

Background: In Brazil there is a nutritional transition between child malnutrition and increasing prevalence of obesity.Objective and hypotheses: The study aims to identify the prevalence of overweight and obesity in children aged 5–18 years in five private and 15 public schools from city of Uberaba Brazil.Method: Anthropometric data, inventorys physical activities and socioeconomic aspects were evaluated from 1125 individuals...

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...

hrp0086p1-p337 | Gonads &amp; DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

hrp0092p1-39 | Fat, Metabolism and Obesity | ESPE2019

Differences Between Short- and Long-term Outcomes of Laparoscopic Sleeve Gastrectomy in Adolescence

Ybarra Marina , Rocha Franco Ruth , Santos Tiago Jerônimo dos , Rachid Ludmilla , Bezerra Marilia P. C. , Cominato Louise , Damiani Durval , Prieto Velhote Manoel Carlos

Background: Laparoscopic sleeve gastrectomy (LSG) has been established as a safe and effective bariatric procedure during adolescence, but its long-term results remain uncertain. Our aim was to report and compare the short- and long-term outcomes of LSG in adolescents.Methods: We performed a retrospective analysis of patients submitted to LSG between 2010 and 2013 in our Institution. Baseline, short-term (1 year) and lon...