hrp0095p1-200 | Thyroid | ESPE2022

Severe and Non Severe Forms of Autoimmune Hypothyroidism in Childhood: A Retrospective Analysis of 256 Cases

Maltoni Giulio , Vincenzi Gaia , Scozzarella Andrea , Tarantola Giulia , Cristina Vigone Maria , Cassio Alessandra

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...

hrp0095p1-412 | Adrenals and HPA Axis | ESPE2022

A single centre experience of aromatase inhibitors to limit bone age advancement in pre-pubertal boys with adrenal disorders causing androgen excess

Shaunak Meera , Zichichi Giulia , Peters Catherine , Brain Caroline , Dattani Mehul

Introduction: Anastrozole, an aromatase inhibitor, prevents the conversion of androgen to oestrogen, which is required for the adolescent growth spurt and the attainment of peak bone mass. Anastrozole may help minimise bone age (BA) advancement in conditions associated with adrenal androgen excess, such as congenital adrenal hyperplasia (CAH) and premature adrenarche.Objectives: 1. To describe baseline characteristics an...

hrp0089p2-p324 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Endocrine-Metabolic Characterization of Pediatric Patients with Craniopharyngioma: A Single-centre Cohort study

Pedicelli Stefania , Sette Giulia , Cianfarani Stefano , Cappa Marco

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...

hrp0086p2-p878 | Syndromes: Mechanisms and Management P2 | ESPE2016

The Monitoring of Endocrine Functions in Children with Rare Genetic Syndromes

Akulevich Natallia , Makarova Yulia , Boiko Giulia , Solntseva Anzhelika , Khmara Irina

Background: Children with rare genetic disorders may have different endocrine problemsObjective and hypotheses: To present 4 paediatric patients (3 M, 1 F) aged 4.3 – 16.9 y.o. (mean age 11±5.5 years) with different genetic syndromes: Pallister-Hall, Holt-Oram, Ellis–van Creveld and Marshall.Method: Retrospective study.Results: Mean age of diagnosis was 5.3±2.7 y.o. All children had growth...

hrp0084fc12.1 | Obesity - Clinical | ESPE2015

Evaluation of Cardiovascular Risk in Childhood: Data from a Survey of Dyslipidaemic Children

Bruzzi Patrizia , Colombini Giulia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...

hrp0097p1-74 | Fat, Metabolism and Obesity | ESPE2023

A novel mutation of leptin gene in two siblings with early onset obesity

Deodati Annalisa , amodeo mariaelisa , mirra giulia , pampanini valentina , cianfarani stefano

Background: Congenital leptin deficiency is a rare cause of early-onset severe obesity. Clinical features of congenital leptin deficiency include early-onset severe obesity, marked hyperphagia, endocrine and metabolic alterations. Some patients have immune dysregulation.Case report: We describe two siblings from Libya referred for severe obesity. A boy (patient 1) referred at the age of 4 years and 3 months and a girl (p...

hrp0097p1-160 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

COX deficiency: undescribed endocrinological features in three patients with SCO1 mutation

Barbato Alessandro , Gori Giulia , Sacchini Michele , Pochiero Francesca , Stagi Stefano

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

hrp0098p2-154 | GH and IGFs | ESPE2024

Two Clinical Cases of Growth Hormone Insensitivity Overlapping Disorders: STAT3 Gain-Of-Function Syndrome and Meier-Gorlin Syndrome.

Del Medico Giulia , Consonni Filippo , Gambineri Eleonora , Stagi Stefano

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

hrp0094p2-357 | Pituitary, neuroendocrinology and puberty | ESPE2021

Gonadotropin-releasing hormone analog treatment in children with idiopathic central precocious puberty: a pharmacovigilance study in a pediatric population.

Nasso Chiara , Cafarella Giulia , Visalli Giulia , Di Prima Elena , Squadrito Violetta , Squadrito Francesco , Altavilla Domenica , Aversa Tommaso , Wasniewska Malgorzata , Valenzise Mariella ,

Background: Central precocious puberty (CPP) results from premature activation of hypothalamic-pituitary-gonadal axis, which leads to an increased release of gonadotropin-releasing hormone (GnRH). GnRH stimulates the development of secondary sexual features, rapid bone maturation and growth. GnRH agonists (GnRHa) represent the gold-standard therapy in CPP children and their use is responsible for pituitary GnRH receptors down-regulation, luteinizing hormone (L...

hrp0095p1-502 | GH and IGFs | ESPE2022

A real life evaluation of rhGH efficacy in children born SGA

Tattesi Giulia , Deodati Annalisa , Inzaghi Elena , Elisa Amodeo Maria , Bizzarri Carla , Cappa Marco , Cianfarani Stefano

Background: Children born SGA are at risk of becoming short adults. Although most children born SGA show catch-up growth in the first 24 months of life, approximately 10% remain below the 3rd centile throughout childhood and adolescence. The available evidence shows that GH therapy can increase adult height in short children born SGA although long-term response is variable and closely related to the 1st year response.Aims:</stron...