hrp0095p1-93 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Measurements of Growth Hormone in neonatal screening cards as a non-invasive and feasible tool: reference values in healthy term newborns.

Giacchetti Federico , Vidali Matteo , Sangiorgio Andrea , Rodari Giulia , Vantaggiato Chiara , Modugno Adriana Di , Morniroli Daniela , Colombo Lorenzo , Profka Eriselda , Dall'Antonia Alberta , Collini Valentina , Ceriotti Ferruccio , Mosca Fabio , Arosio Maura , Lorella Giannì Maria , Giavoli Claudia

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

hrp0097p1-86 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Measurements of Growth Hormone using dried blood spots in preterm neonates: reference values and longitudinal evaluation.

Federico Giacchetti , Orsenigo Chiara , Vizzari Giulia , Tarricone Silvia , Vantaggiato Chiara , Rodari Giulia , Napolitano Filomena , Sangiorgio Andrea , Morniroli Daniela , Colombo Lorenzo , Profka Eriselda , Collini Valentina , Risio Alessandro , Lorella Giannì Maria , Arosio Maura , Mantovani Giovanna , Mosca Fabio , Ceriotti Ferruccio , Vidali Matteo , Giavoli Claudia

Background and aim: Congenital growth hormone deficiency (cGHD) is a rare but life-threatening condition whose diagnosis is challenging in the absence of reliable reference values, both in healthy neonates and in preterm ones. We recently estimated GH reference interval in 1036 healthy, at-term newborns (HN) form dried blood spot samples using a previously validated analytical method.Aim: of this study is to provide valu...

hrp0089p1-p211 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Effect of Pubertal Blockade and Cross-sex Hormone Treatment on the Growth Spurt in Young Transgender Adolescents: A First Report

Catanzano Matteo , Butler Gary

Intro: Gender variance is becoming more common in young people. International guidelines recommend GnRH analogues (GnRHa) for gender variant young people from Tanner stage 2 onwards and cross-sex hormones (CSH) from age 16yr onwards. However, no good evidence exists how these affect growth. This first report aims to determine the impact of GnRHa and CSH on growth in young transgender adolescents to help inform prescribing in this patient cohort.Methods: ...

hrp0095p1-196 | Thyroid | ESPE2022

Diffuse Sclerosing Variant of Papillary Thyroid Cancer in a boy with Goldenhar Syndrome

Ferrari Marta , Cerutti Matteo , Ricci Franco , Stagi Stefano

A 16-year-old boy was admitted to the Emergency Department for a painless laterocervical swelling, dysphagia and an ultrasound suspect of thyroiditis. On examination he presented facial asymmetry due to maxillary bones hypoplasia and facial nerve palsy of recent onset. There was also a history of hearing loss, hypospadias, Arnold-Chiari malformation and vertebral defects according to a clinical phenotype of Goldenhar Syndrome (GHS). Blood exams showed TSH 7.46 μU/ml (0.68-4...

hrp0097fc11.3 | GH and IGFs | ESPE2023

Analysis of a large panel of genes in a cohort of patients with severe short stature: detection rate and genotype-phenotype correlations

Guazzarotti Laura , Mozzato Chiara , Meneghin Alice , Nicolucci Antonio , Cassina Matteo

Short stature is a frequent reason for referral to pediatric endocrinologists and this phenotype has been associated with a large number of gene variations during the last decades, highlighting its complex and heterogeneous etiology. We evaluated the detection rate of the analysis of a selected gene panel in a cohort of patients with short stature defined as height below -2 standard deviations (SD). Overall, 134 patients were included in the study: 73 with GH deficiency (GHD),...

hrp0089p2-p266 | Growth & Syndromes P2 | ESPE2018

A Novel FGFR1 Mutation in Kallmann Syndrome with Growth Hormone Deficiency

Tornese Gianluca , Pellegrin Maria Chiara , Pavan Matteo , Faleschini Elena , Barbi Egidio

Background: Kallmann syndrome (KS) is a genetic disorder, mainly characterized by the association of anosmia (due to hypo/aplasia of the olfactory bulbs) and hypogonadotropic hypogonadism (due to GnRH deficiency). Both partial or complete forms are described. Other features (skeletal and renal malformations, deafness, bimanual synkinesis) can be variably associated. Behind this phenotypic heterogeneity, there is a considerable complexity of genetic mutations. KAL1, <e...

hrp0086p2-p663 | Growth P2 | ESPE2016

A Case of GH Deficiency in a Female with 3M Syndrome

Bortone Barbara , Scalini Perla , de Martino Maurizio , Giglio Sabrina , Lapi Elisabetta , della Monica Matteo , Stagi Stefano

Background: 3-M syndrome is an autosomal recessive primordial growth disorder characterized by severe prenatal and postnatal growth retardation, normal mental development, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes are responsible for this syndrome. In literature a modest response to GH treatment in 3M children is reported without a significant improvement in the final height, suggesting a picture...

hrp0086p1-p818 | Syndromes: Mechanisms and Management P1 | ESPE2016

Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children

Genoni Giulia , Monzani Alice , Castagno Matteo , Giordano Mara , Prodam Flavia , Bellone Simonetta , Bona Gianni

Background: Haploinsufficiency of short stature homeobox containing gene (SHOX) is one of the main monogenic causes of short stature. The phenotype of SHOX deficiency (SHOX-D) is often mild, making difficult to identify which short-statured children should be screened.Objective and hypotheses: To estimate the prevalence of SHOX-D in Italian short-statured children and to analyse their phenotype and the sensitivity of various scores and anthropometric mea...

hrp0082fc3.6 | Diabetes | ESPE2014

Alpha-Lipoic Acid and Anti-Oxidant Diet Helps to Improve Endothelial Dysfunction in Children and Adolescents with Type 1 Diabetes

Scaramuzza Andrea , Ungheri Saverio , Redaelli Francesca , Bosetti Alessandra , Giani Elisa , Ferrari Matteo , Comaschi Valentina , Giudici Valentina , Zuccotti Gian Vincenzo

Background: Endothelial dysfunction is a macrovascular complication of type 1 diabetes. Children and adolescents with type 1 diabetes may suffer of endothelial dysfunction, irrespective of chronological age and disease duration.Objective and hypotheses: After evaluating the prevalence of early endothelial dysfunction, as measured by mean of reactive hyperaemia in adolescents with type 1 diabetes, at baseline and after 1-year follow-up, we started a 6-mon...

hrp0084p2-417 | GH &amp; IGF | ESPE2015

GH Therapy in Skeletal Dysplasias: Final Height Data

Scarano Emanuela , Procopio Matteo , Tamburrino Federica , Perri Annamaria , Bettocchi Ilaria , Vestrucci Benedetta , Rollo Alessandra , Balsamo Antonio , Mazzanti Laura

Background: Skeletal dysplasias are characterised by bone-cartilage involvement and impairment of growth and body proportions. Reports of the benefits of GH treatment are difficult to evaluate for the small number of subjects, short period of treatment, few final height (FH) data in groups with and without GH deficiency (GHD).Objective and hypotheses: The aim of our study was to assess FH and body proportions in pts with skeletal dysplasia and GHD.<p...