hrp0094fc3.1 | Growth Disorders | ESPE2021

iPPSD: focus on neonatal features, preliminary data from a retrospective analysis of a large cohort of patients.

Del Sindaco Giulia , Pagnano Angela , Berkenou Jugurtha , Rothenbuhler Anya , Arosio Maura , Mantovani Giovanna , Linglart Agnes ,

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

hrp0092p3-107 | Fat, Metabolism and Obesity | ESPE2019

Relation of Serum 25 Hydroxy-Vitamin Levels D3 with Body-Mass Index in Pediatric Patients

Ventura Wichner Paula Sol , Bosch Zelmira , Grigolato Anabella , Del Valle Rossi Romina , Fornells Eduard , LaCruz Marisa Torres

Background: The aim of our study is to determine the relation of vitamin D levels (25(OH)VD) with body-mass index (BMI), age and month of extraction in pediatric patients.Materials and Methods: We present a retrospective review of medical records of patients under 18 years of age visited by the Children's Endocrinology Service (overweight and obesity) and ambulatory pediatrics (healthy and normal weight children) at ...

hrp0089p3-p173 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Outcome of Eight Patients with Congenital Hyperinsulinism (CHI) Studied with 18[F]Dihydroxyphenyl-Alanine Positron Emission Tomography Imaging (18F-DOPA-PET-CT) in Argentina

Tangari Saredo Ana , Flanagan Sarah , Alonso Guillermo , Caceres Juan , Troiano Marina , Bignon Horacio , Bastianello Maria , Graciela Del Rey , Ignacio Bergada

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

hrp0086p2-p394 | Gonads & DSD P2 | ESPE2016

Duct Ectasia, a Rare Complication of Gynaecomastia

Fuentes-Bolanos Noemi , Dolores Martin Salvago Maria , Martinez Moya Gabriela , del Toro Codes Marta , de la Cruz Moreno Jesus

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...

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...

hrp0084p1-66 | DSD | ESPE2015

46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

Grinspon Romina P , Nevado Julian , Alvarez Maria de los Angeles Mori , Rey Rodolfo A , del Rey Graciela , Chiesa Ana

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...

hrp0084p1-99 | Growth | ESPE2015

GH Hypersecretion in Children with NF1 and Optic Pathway Gliomas

Pedicelli Stefania , Cambiaso Paola , Macchiaiolo Marina , Galassi Stefania , Mastronuzzi Angela , Del Bufalo Francesca , Ubertini Graziamaria , Cappa Marco

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...

hrp0089p3-p204 | GH & IGFs P3 | ESPE2018

Children Born Small for Gestational Age Treated with Growth Hormone: Evolutionary Aspects

Vazquez Veronica Maria Padin , Costa David Albino Gomez , Garcia Aida Del Campo , Cordo Lourdes Rey , Martin Jose Luis Chamorro , Lorenzo Jose Ramon Fernandez

Introduction: Short stature is defined as stature less than −2 standars deviations (SD) for a person’s age and sex of the reference population. Short for gestational age children (SGA) represent 20% of all children with short stature. 10% of these can not catch-up and remains their height below −2 SD. Growth hormone (GH) treatment is a recognized therapy for SGA children authorized in Europe at 4 years old. There are studies that support that younger children ...