hrp0089p2-p268 | Growth & Syndromes P2 | ESPE2018

A New Mutation in IHH Gene Causing Severe Short Stature

Festa Adalgisa , Luongo Caterina , Grandone Anna , Cirillo Grazia , Greco Federica , Torella Annalaura , Nigro Vincenzo , Giudice Emanuele Miraglia Del

Introduction: Heterozygous mutations in IHH are known to cause Brachydactyly type A1 (BDA1), in which the typical clinical features are bilaterally short-ening or absence of the middle phalanges of most digits of hands and feet, shortness of 1st proximal bone and short stature; althougt short stature is considered part of BDA1, in most reported cases is not always present or unrelevant compared to the stature of unaffected relatives. Recently heterozygous mutations ...

hrp0086p2-p665 | Growth P2 | ESPE2016

Association between IGF-1 (Insulin-Like Growth Factor) SD Levels and Children with Growth Hormone Deficiency with and without Pituitary Morphological Abnormalities

Claudia Schmitt-Lobe Maria , Frare Dionara , Greco Rafael

Background: The diagnostic use of IGF-1 in children suspected of GHD is based on the assumption that a single determination of this parameter reflects the integrated 24-h GH secretion. IGF-1 levels are low in GHD, but a study found a significantly lower sensitivity in children with organic lesions in the brain.Objective: The aim of this study was to check if there is a statistically significant relation between IGF-1 values in children with GHD with and ...

hrp0092p2-21 | Adrenals and HPA Axis | ESPE2019

Fludrocortisone Treatment in a Child with Postural Orthostatic Tachycardia Syndrome (POTS): A Case Report

Varriale Gaia , Greco Marco , De Simone Luciano , Pozzessere Anna , Stagi Stefano

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...

hrp0084p3-900 | Fat | ESPE2015

Predicting Early Cardiovascular Risk in Obese Children Based on Anthropometry

Cipollone Claudia , Piccorossi Alessandra , Antenucci Annarita , Greco Carla , Lasorella Stefania , Farello Giovanni

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...

hrp0086p2-p834 | Syndromes: Mechanisms and Management P2 | ESPE2016

Auxological Features in Patients with Vernal Keratoconjunctivitis

Stagi Stefano , Pucci Neri , Del greco Paolo , Scalini Perla , Tubili Flavia , Pantano Stefano , de Martino Maurizio , Novembre Elio

Background: Vernal keratoconjunctivitis (VKC) patients have an elevated incidence of growth hormone deficiency and thyroid diseases. Nevertheless, no auxological data are available in these subjects.Objective and hypotheses: The purpose of this study was to evaluate the auxological features in a cohort of patients with VKC.Method: This study included 179 Caucasian VKC patients (119 males, 60 females; mean age 9.63±2.98 years) ...

hrp0082p2-d1-294 | Bone | ESPE2014

Determinants of Vitamin D Levels in Children and Adolescents with Down Syndrome

Stagi Stefano , Lapi Elisabetta , Scalini Perla , Greco Paolo Del , Ricci Franco , Marino Achille , de Martino Maurizio , Seminara Salvatore

Background: Down syndrome (DS) is the most common genetic (chromosomal) mental retardation syndrome. In these patients, several environmental and hormonal factors contribute to low bone mineral density (BMD), among these factors, vitamin D may play a significant role in the health of patients with DS. However, poor studies have evaluated 25-hydroxy cholecalciferol (25(OH)D) levels in DS.Objective and hypotheses: The purpose of this study was to assess se...

hrp0082p3-d1-935 | Puberty and Neuroendocrinology | ESPE2014

An Unusual Case of Early and Accelerated Puberty

Scalini Perla , Stagi Stefano , Pelosi Paola , Ricci Franco , Anzillotti Giulia , Greco Paolo Del , Seminara Salvatore , de Martino Maurizio

Background: Unlike precocious puberty, early and/or fast puberty have been less studied, despite the fact that this disorder may be associated to an organic lesion at CNS level.Objective and hypotheses: We illustrate a case of early and fast puberty in a girl with an occult intra-cranial tumor.Method: The girl was the first child of non-consanguineous, Italian parents. The family had a positive history of early puberty. Target heig...

hrp0086p2-p835 | Syndromes: Mechanisms and Management P2 | ESPE2016

Turner Syndrome: Does GH Treatment Influence Glucose Homeostasis?

Baronio Federico , Lupi Fiorenzo , Girtler Ylenia , Tamburrino Federica , Maltoni Giulio , Scarano Emanuela , Mazzanti Laura , Radetti Giorgio

Background: Growth hormone (GH) has been shown to reduce insulin sensitivity in Turner girls, however a compensatory increase of insulin secretion by pancreatic beta cells usually occurs, probably stimulated by GH itself. Oral disposition index (ODI) express the capacity of beta cells to adapt to insulin sensitivity.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the insulin secretion (IGI) and the ODI in a group of gi...

hrp0082p1-d1-204 | Reproduction | ESPE2014

The Influence of GH Treatment on the Oral Disposition Index in Turner Syndrome Girls and in GH Deficient Children: 8 Years of Follow-Up

Baronio Federico , Lupi Fiorenzo , Siroli Benedetta , Longhi Silvia , Tamburrino Federica , Scarano Emanuela , Mazzanti Laura , Radetti Giorgio

Background: GH has been shown to influence glucose homeostasis through a negative effect on insulin sensitivity followed by a compensatory increase of insulin secretion. However it has been recently reported, in animals and in humans, that GH might stimulate insulin secretion also through a direct effect on the growth and on the function of the pancreatic β cell.Objective and hypotheses: To study longitudinally the insulin sensitivity (HOMA-S), the ...

hrp0084p2-305 | DSD | ESPE2015

‘www.steroidogenicfactor-1.info’: An Online Database of Variants in Steroidogenic Factor 1 (SF-1, NR5A1) and Resource for Families and Professional Healthcare Providers

Suntharalingham Jenifer , Buonocore Federica , Duncan Andrew , Achermann John

Background: Steroidogenic factor 1 (SF1), encoded by the gene NR5A1, is a member of the orphan nuclear receptor superfamily and important regulator of gonadal and adrenal function. Variations in SF1 lead to a spectrum of conditions including 46,XY DSD, hypospadias, adrenal insufficiency, male factor infertility, and primary ovarian insufficiency. Inheritance patterns can be complicated (e.g. de novo dominant, sex-limited dominant, and autosomal recessive). In...