hrp0098p3-167 | Growth and Syndromes | ESPE2024

Efficacy of alternative Somatropine-rhGH treatment for the management of SHOX-related short stature

Guazzarotti Laura , Felicia Faienza Maria , Gallo Francesco , Gaudino Rossella , Cristina Maggio Maria , Pozzobon Gabriella , Salerno Mariacarolina , Wasniewska Malgorzata , Cappa Marco

Introduction: The short stature homeobox-containing gene, SHOX, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. Growth impairment is a common manifestation in SHOX deficient patients (SHOXD), with variable degrees of height disablement. The growth promoter treatment of SHOXD patients consists in the administration of recombinant human GH (rhGH). In Italy, the allowed formulation of rhGH (somatropine, Hum...

hrp0095p1-247 | Diabetes and Insulin | ESPE2022

Monogenic diabetes clinic: 3-year experience

Rapini Novella , Ippolita Patera Patrizia , Schiaffini Riccardo , Ciampalini Paolo , Pampanini Valentina , Cristina Matteoli Maria , Deodati Annalisa , Bracaglia Giorgia , Porzio Ottavia , Novelli Antonio , Mucciolo Mafalda , Cianfarani Stefano , Barbetti Fabrizio

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...

hrp0095p1-538 | Multisystem Endocrine Disorders | ESPE2022

Capillary Hyperglycemia in Infants - A manifestation of endocrinological urgency, or not.

de Assis Galan Camila , Isabel Scheidt Maria , Cristina Pedroso de Paula Leila , Vanessa de Lima Silva Elis , Simão Medeiros Leonardo , de Oliveira Poswar Fabiano

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

hrp0095lb12 | Late Breaking | ESPE2022

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Sousa Eulália , Luís Telma , Cristina Santos Ana , Lima Conceição , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

hrp0095p2-13 | Adrenals and HPA Axis | ESPE2022

Failure to Thrive as A Manifestation of Neonatal Cushing.

Isabel Scheidt Maria , de Assis Galan Camila , Cristina Pedroso de Paula Leila , da Costa Rodrigues Ticiana , Antonio Czepielewski Mauro , Guaragna Filho Guilherme

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...

hrp0095p2-220 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary Macroadenomas in Childhood and Adolescence. Clinical Analysis of 7 Cases

Aguilar-Riera Cristina , González Núria , Mogas Eduard , Campos Ariadna , Fàbergas Anna , Vázquez Elida , Clemente María , Yeste Diego

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsu...

hrp0092p1-420 | Thyroid (2) | ESPE2019

The Genetic and Clinical Characteristic of Pediatric Patients with Congenital Hypothyroidism Gland In-Situ

Cristina Vigone Maria , Saracco Luca , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Persani Luca , De Filippis Tiziana , Guizzardi Fabiana , Grazia Patricelli Maria , Spiga Ivana , Weber Giovanna

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

hrp0092p1-423 | Thyroid (2) | ESPE2019

Congenital Hypothyroidism (CH) Detected by the Second Newborn Screening in Lombardia Region: Incidence and Evolution of CH

Caiulo Silvana , Cristina Vigone Maria , Di Frenna Marianna , De Angelis Simona , Rotondi Daniela , Vincenzi Gaia , Lucchi Simona , Alberti Luisella , Barera Graziano , Corbetta Carlo , Olivieri Antonella , Weber Giovanna

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

hrp0092p2-145 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Neonatal Hypo-ketotic Hypoglycemia Secondary to Transient Hyperinsulinism. Diazoxide Responsiveness and Experience with Fasting Test after Treatment Withdrawal

Salamanca Luis , Itza Nerea , Mora Cristina , Dominguez Jesús , de Pipaón Miguel Sáez , Campos Angel , González Isabel

Introduction: Transient hyperinsulinism is described in neonates with stress factors (intrauterine growth restriction (IUGR), large for gestational age (LGA), perinatal asphyxia, infants of diabetic mother etc.). Recognition and early treatment is prioritary to avoid neurological morbidity related with recurrent hypoglycemia.Objective: Describe the incidence of transient hyperinsulinism. Clinical charac...

hrp0092p3-157 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Bardet-Biedl Syndrome: A Case Series

Mendes Ana Raquel , Lopes Andreia , Lobo Ana Luísa , Ferreira Cristina , Isolina Aguiar Maria , Tavares Cláudia , Meireles Carla

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...