hrp0082p3-d3-923 | Pituitary (1) | ESPE2014

Think Histiocytosis X Facing Insipidus Diabetes with Thickened Pituitary Stalk

Lichtenberger-Geslin Lydia , Gourmel Antoine , Sainte-Rose Christian , Trifunovic-Bony Helene , Braun Karine , Boudailliez Bernard , Devoldere Catherine

Background: Insipidus diabetes is a rare disease in pediatric endocrinology.Objective and hypotheses: Facing a thickened pituitary stalk on MRI pituitary, the main diagnosis to mention are: dysgerminoma, histiocytosis, sarcoidosis, and autoimmune hypophysitis. Histiocytosis is a rare and often underdiagnosed cause.Method: We report the case of a teenage girl who presented polyuria–polydipsia syndrome at the age of 14 years con...

hrp0094fc4.3 | Diabetes | ESPE2021

Aldosterone and pro-atrial natriuretic peptide kinetics in response to rehydration in children with diabetic ketoacidosis

Burckhardt Marie-Anne , Otto Marije , Gotta Verena , Beglinger Svetlana , Bachmann Sara , Hess Melanie , Rentsch Katharina , Koch Gilbert , Davis Elizabeth , Zumsteg Urs , Jones Tim , Pfister Marc , Szinnai Gabor ,

Background: Diabetic ketoacidosis (DKA), a frequent complication of type 1 diabetes (T1D), is characterized by hyperosmolar hypovolemia. The response of water-regulating hormones to DKA treatment in children is not well known. While arginine vasopressin (AVP) is thought to respond to changes in osmolality, aldosterone and atrial natriuretic peptide (ANP) are expected to respond to volume changes (dehydration and overhydration, respectively). The objective of t...

hrp0098ha1 | Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets | ESPE2024

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

Janot Clément , Lucas Cécily , Mallet Delphine , Demdoum Mohammed , Martinez Antoine , Plotton Ingrid , Reynaud Rachel , Rigaud Chantal , Silve Caroline , Val Pierre , Roucher-Boulez Florence

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

hrp0095p1-154 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Reference values in pelvic ultrasonography for a Spanish population of healthy girls between 6 and 12 years old

Corripio Raquel , Villalobos Marisa , Patricia Beltrán-Salazar Viviana , Pérez Jacobo , Duran Carmina

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

hrp0095p1-550 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical description of ten paediatric patients with rapid-onset obesity and clinical signs of ROHHAD-NET Syndrome

Aziz Mariana , Leske Vivian , Caminiti Carolina , Armeno Marisa , Ciaccio Marta , Gil Silvia

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

hrp0092p1-68 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Growth and Cognition at Peri-Pubertal Age in Preterm Infants Very Low Birth Weight: The Role of Extrauterine Growth Restriction (EUGR)

Lucaccioni Laura , Malmusi Giovanni , Talucci Giovanna , Pugliese Marisa , Arrigoni Marta , Spada Caterina , Ferrari Fabrizio , Iughetti Lorenzo

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...

hrp0092p1-282 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Characteristics of 311 Children with Early Onset Pubertal Signs. Descriptive Study

Wichner Paula Sol Ventura , Herrero Xavier , Llorca Maria Laura , Bosch Zelmira , Lacruz Marisa Torres

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

hrp0082p3-d3-801 | Gonads and Gynaecology | ESPE2014

The Usefulness of the Leuprolide Stimulation Test as a Diagnostic Method of Idiopathic CPP in Girls

Bel Joan , Murillo Marta , Carretto Federico , Martinez Maria , Granada Marisa , Salinas Isabel

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

hrp0084p2-454 | Growth | ESPE2015

Growth Pattern in Children Affected of Lowe Syndrome – Descriptive Multicentre International Study: Preliminary Data

Suarez-Ortega Larisa , Roman Anna Casteras , Loranca Marisa , del Pozo Jaime Sanchez , Group Rare Commons

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...

hrp0095p1-435 | Diabetes and Insulin | ESPE2022

Are we sure that the prevalence of SARS-CoV-2 infection is not underestimated? Usefulness of serological antibodies assays in children and adolescents with type 1 diabetes

Predieri Barbara , Bruzzi Patrizia , Meacci Marisa , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Iughetti Lorenzo

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...