hrp0097p1-144 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Idiopathic Central Precocious Puberty on the Rise: A Retrospective Study Before and During the COVID-19 Pandemic in a Portuguese Tertiary-Level Hospital

Miguel Resende Maria , Gomes Pereira Patrícia , Mendes Catarina , João Oliveira Maria , Borges Teresa , Freitas Joana

Background and Aims: In light of the recent evidence suggesting an increase in idiopathic central precocious puberty (ICPP) cases during the COVID-19 pandemic, this study aimed to assess the proportion of patients referred for precocious puberty (PP) and, within this group, the number of ICPP cases diagnosed before and during the pandemic. Additionally, we compared the demographic, anthropometric, and clinical characteristics of ICPP patients between the two g...

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...

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...

hrp0089p3-p018 | Adrenals and HPA Axis P3 | ESPE2018

Adequate Interpretation of Cortisol Levels in Children

Chueca Maria J , Villarreal Maria , Andres Carlos , Berrade Sara , Dura Teodoro , Nova Luiz-Miguel , Rodriguez Pablo

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

hrp0095p1-541 | Multisystem Endocrine Disorders | ESPE2022

Severe Systemic Pseudohypoaldosteronism Type 1: 10 years of evolution

Luísa Carvalho Ana , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

hrp0095p2-177 | Growth and Syndromes | ESPE2022

Effects of Somatropin treatment in different groups of patients with indication for replacement therapy: isolated growth hormone deficiency, small for gestational age, Turner syndrome and Prader-Willi syndrome

Afonso Nuno , Luísa Carvalho Ana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

hrp0092p3-318 | Late Breaking Abstracts | ESPE2019

Novel Mutation in HNF4-Alpha Gene and Reclassification of Diabetes in a Family

Miguel Gomes Maria , Lemos Manuel C. , Marques Olinda , Martins Sofia , Antunes Ana

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

hrp0089p3-p362 | Thyroid P3 | ESPE2018

Graves’ Disease in a Pediatric Population: Results from the Last 17 Years at a Pediatric Endocrinology Unit

Carvalho Fabia , Paredes Silvia , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Introduction: GravesÂ’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

hrp0086p1-p482 | Fat Metabolism and Obesity P1 | ESPE2016

Changes in Urine and Plasma Metabolomics Profiles after a Lifestyle Intervention Program in Obese Prepubertal Children

Jesus Leal Witt Maria , Llobet Marina , Samino Sara , Rodriguez Miguel A. , Yanes Oscar , Ramon Marta , Lerin Carles

Background: Obesity is one of the major risk factor for metabolic and cardiovascular disorders, and its global prevalence has increased exponentially in the last decades. Excessive weight gained during early childhood increases long-term risk; however, reversing this condition during early-life reduces risk, improving childrenÂ’s quality of life.Objective and hypotheses: We hypothesized that a lifestyle intervention in obese prepubertal children woul...

hrp0086p2-p589 | Perinatal Endocrinology P2 | ESPE2016

Severe Systemic Pseudohypoaldosteronism Type 1: 5 Years of Evolution

Miguel Gomes Maria , Baptista Vera , Martins Sofia , Marques Olinda , Antunes Ana

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...