hrp0082p2-d3-614 | Turner Syndrome | ESPE2014

Aortic Dilation in a Large Cohort of Paediatric and Young Adult Patients with Turner Syndrome

Geniuk Nadia , Vaiani Elisa , Rizzi Ana , Guercio Gabriela , Warman Monica , Michelli Diego , Rivarola Marco , Belgorosky Alicia

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adultsÂ’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

hrp0086p1-p47 | Adrenal P1 | ESPE2016

Predictive Factors for Premature Pubarche in a Large Cohort of Italian Children

Cavarzere Paolo , Caushi Bojana , Ramaroli Diego , Gaudino Rossella , Antoniazzi Franco

Background: Premature pubarche refers to the appearance of pubic hair without other signs of puberty or virilization before 8 years in girls and 9 years in boys. The etiology of premature pubarche is not known. It has been suggested that an early maturation of the zona reticularis of the adrenal cortex is at the basis of premature pubarche, leading to an increase of adrenal androgens to levels that are normally seen in early puberty. In alternative, in children with normal and...

hrp0089p2-p075 | Diabetes & Insulin P2 | ESPE2018

Type 5 Monogenic Diabetes: Reportof 7 Cases

Eduard Mogas , Rosa Pacheco , Diego Yeste , Ariadna Campos , Luis Castano , Maria Clemente

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

hrp0089p3-p184 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Mutation in UCP2 Gene: A Rare Cause of Hyperinsulinemic Hypoglycaemia Syndrome in a Small-for-Gestational Age Newborn

Clemente Maria , Yesquen Pamela , Campos Ariadna , Mogas Eduard , Fernandez Monica , Yeste Diego

Hyperinsulinism is a common cause of severe and persistent hypoglycaemia during the neonatal period. Eleven genes have been identified that lead to unregulated insulin secretion and hyperinsulinemic hypoglycaemia (HH). Inactivating mutations in UCP2 gene have been described in a very small number of patients with HH. UCP2 protein is an inner mitochondrial carrier protein and its loss of function causes enhanced glucose oxidation and increased intracellular ATP synthes...

hrp0089p3-p185 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Hyperinsulinemic Hypoglycaemia Syndrome in Small-for-Gestational Age Newborns: Clinical Characteristics and Genetic Study

Yesquen Pamela , Clemente Maria , Campos Ariadna , Fernandez Monica , Castillo Felix , Yeste Diego

Hyperinsulinemic hypoglycaemia (HH) is a common cause of severe and persistent hypoglycaemia during the neonatal period. Risk factors for neonatal transient hyperinsulinism are small-for-gestational age (SGA), perinatal asphyxia and maternal diabetes mellitus. This state of hyperinsulinism in SGA newborns could persist from weeks to years, resulting in an important comorbidity; its pathogenesis remains unknown.Objective: To describe the clinical-genetic ...

hrp0089p2-p215 | GH &amp; IGFs P2 | ESPE2018

Systematic Prospective Study of Eye Funduscopy Before and After Starting Treatment with Growth Hormone in 290 Patients

Eduard Mogas , Nieves Martin , Diego Yeste , Luis Castano , Maria Clemente , Ariadna Campos , Antonio Carrascosa

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

hrp0089p3-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil

Melardi Julia , Cunha Diego , Ferreira Marianna , Brigatti Nathalia , Carvalho Filomena , Cominato Louise , Steinmetz Leandra , Damiani Durval

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

hrp0086p2-p58 | Adrenal P2 | ESPE2016

Isthmic Spondylolisthesis in a Pre-pubertal Boy with Congenital Adrenal Hyperplasia During Aromatase Inhibitor Treatment

Fajardo Nadya Jaimes , Clemente Maria , Fontecha Garcia , Yeste Diego , Campos Ariadna

Background: The aim of therapy in patients with congenital adrenal hyperplasia (CAH) is to use glucocorticoid doses as low as possible to achieve adrenal suppression. Both chronically increased androgen secretion and increased glucocorticoid exposure may adversely affect adult height and in some patients this therapeutic balance is difficult to achieve. In these particular cases aromatase inhibitors (AI) could be indicated with de aim to reduce glucocorticoid doses avoiding th...

hrp0082p2-d3-436 | Growth Hormone (2) | ESPE2014

Reevaluation of GH Secretion During Puberty in Children Diagnosed as GH-deficient During Childhood

Ramaroli Diego , Maines Evelina , Piona Claudia Anita , Morandi Grazia , Gaudino Rossella , Antoniazzi Franco

Background: GH secretion increases physiologically during puberty and GH levels correlate with pubertal stage. Therefore, puberty is the most likely time for normalization of GH secretion in children with GHD. No studies have so far evaluated in children diagnosed as GH-deficient during childhood potential predictors of response to the reevaluation of GH secretion during puberty.Objective and hypotheses: The aim of our study is to establish and compare t...

hrp0082p2-d3-504 | Perinatal and Neonatal Endocrinology | ESPE2014

Vitamin D Deficiency as the Primary Cause of Neonatal Hypocalcemia in a Tertiary Hospital

Campos-Martorell Ariadna , Narvaez Karla , Clemente Maria , Yeste Diego , Mogas Eduard , Gerones Laura , Carrascosa Antonio

Background: Hypocalcemia is a common metabolic disorder in the neonatal period and may involve life-threatening situations. The aim is to analyze the main causes of hypocalcemia and its management.Objective and hypotheses: The aim is to analyze the main causes of hypocalcemia and its management.Method: Retrospective descriptive study by reviewing reports of 75 patients diagnosed of neonatal hypocalcemia (total Ca <7.6 mg/dl and...