hrp0092p2-130 | Fat, Metabolism and Obesity | ESPE2019

Severe Obesity – Much More Than an Unhealthy Lifestyle

Matias Joana , Amorim Marta , Limbert Catarina

Introduction: Pediatric obesity is an important public health problem. Exogenous obesity represents most cases; in some children, obesity is attributable to endocrine or genetic disorders. Genetic etiology should be considered in children with dysmorphic features, global developmental delay, early onset severe obesity (before 5 years), hyperphagia or severe obesity family history. Regardless of the etiology, treatment must begin with long-term lifestyle change...

hrp0092p3-239 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Normosmic Hypogonadotropic Hypogonadism: An Intrafamiliar Case

Soares Joana , Briosa Filipa , Valsassina Rita , Amorim Marta , Limbert Catarina

Background: Idiopathic hypogonadotropic hypogonadism (IHH) is due to the failure of gonadotrofin releasing hormone (GnRH) secretion which impairs the physiological initiation of puberty. About 30 to 50% of IHH is associated to hereditary causes and about 50 mutated genes have been identified.Objective and methods: We present three intra-familial cases of normosmic IHH (nIHH) related to a new association of two hetero...

hrp0082p1-d1-62 | Diabetes | ESPE2014

Effect of Adjunctive Therapy with Cholecalciferol on Residual β-Cell Function in Recent-Onset Type 1 Diabetes Mellitus: a Prospective Pilot Study

Fitas Ana Laura , Almeida Ana Filipa , Limbert Catarina , Lopes Lurdes

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

hrp0084p2-546 | Puberty | ESPE2015

Gynecomastia with Precocious Onset in Peutz-Jeghers Syndrome: Managing the Aromatase Overexpression

Simoes-Pereira Joana , Marques Ana Filipa , Limbert Catarina , Lopes Lurdes

Background: Testicular tumours are an unusual cause of prepubertal gynecomastia. However, in boys with Peutz-Jeghers Syndrome (PJS), a rare autosomal dominant disorder caused by mutation in LKB1/STK11 gene, is mandatory to exclude this etiology, given the well-known association between PJS and Large-Cell Calcyfing Sertoli-Cell Tumor (LCCSCT). This mutation promotes aromatase overexpression in neoplastic Sertoli-cells, leading to gynecomastia.Case present...

hrp0092p1-253 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Changes in the Body Mass Index in Children with Central Precocious Puberty' Under Gonadotropin-Releasing Hormone Analogue Treatment - A Multicentric Study

Galo Elisa , Leite Ana Luisa , Antunes Ana , Robalo Brígida , Espada Filipa , Castro Sofia , Dias Sara , Limbert Catarina

Precocious Puberty is defined by the onset of pubertal development at an age 2-2,5 standard deviations earlier than the normal population. Central Precocious Puberty (CPP) is diagnosed when the hypothalamic-pituitary axis is activated. Gonadotropin-releasing hormone analogues (Gn-RH analogues) are the main treatment option, but sometimes controversial. Whether this treatment influences children's body mass index (BMI) and a different BMI progression is still unclear.<p...

hrp0082p3-d3-733 | Diabetes (2) | ESPE2014

Transient Neonatal Diabetes and Intermediate DEND Phenotype with KCNJ11 Mutation

Fitas Ana Laura , Morais Rita Belo , Viveiros Eulalia , Simoes Anabela , Raposo Ana , Anselmo Joao , Limbert Catarina , Lopes Lurdes

Background: Neonatal diabetes (ND) is a rare condition (1:160.000-260.000 live births) associated with diabetes onset within the first 6 months of life. It can be permanent (PNDM) or transient (TNDM), and several genes can be implicated in both, namely KCNJ11. Clinical phenotypes usually correlate to the causal gene. KCNJ11 mutations are usually associated with PNDM whilst the most frequent cause of TNDM is disordered imprinting in the 6q24 locus.Objecti...

hrp0089p3-p194 | GH &amp; IGFs P3 | ESPE2018

Growth Hormone Treatment: Does Timing Matter?

Marques Bernardo , Gomes Sonia Madeira , Caetano Joana Serra , Cardoso Rita , Dinis Isabel , Mirante Alice , Fitas Ana Laura , Diamantino Catarina , Limbert Catarina , Pina Rosa , Lopes Lurdes

Introduction: Treatment with recombinant growth hormone (rGH) is safe and has greatly improved the approach of children and adolescents with growth hormone deficiency (GHD) and other growth disorders. Some studies show that most of the height gain associated with GH treatment occurs in prepubertal years. The aim of our study was to evaluate the effect of age at start of the treatment on final height in children with isolated or GHD in a Portuguese cohort.<p class="abstext"...

hrp0084p1-31 | Diabetes | ESPE2015

Type 1 Diabetes Onset: A Story of Innate and Adaptive Immune Cells?

Fitas Ana Laura , Martins Catarina , Alonso Anabela , Nunes Gloria , Pina Rosa , Amaral Daniela , Lenzen Sigurd , Lopes Lurdes , Borrego Luis Miguel , Limbert Catarina

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...

hrp0084p3-966 | GH &amp; IGF | ESPE2015

GH Treatment and First Year Response: A Retrospective Study

Moniz Catarina , Vasconcelos Carlos , Limbert Clotilde , Saraiva Catarina

Background: GH treatment is proven to increase adult final height in some pathology and first year response is assumed as an index of treatmentÂ’s effectiveness.Objective and hypotheses: Identify the prevalence of each indication in children treated with GH in our hospital and evaluate the first year response to treatment.Method: We retrospectively analysed the files of 30 patients followed for short stature and on GH treatment...

hrp0094p2-33 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia with a CYP21A2 deletion overlapping Tenascin-X gene

Rodrigues Ivo Catarina , Fitas Ana Laura , Madureira Ines , Diamantino Catarina , Gomes Susana , Goncalves Joao , Lopes Lurdes ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...