hrp0084p2-171 | Adrenals | ESPE2015

Acute Adrenal Failure in a Term Newborn with Congenital Cytomegalovirus Infection: Case Description and Review of the Literature

Marseglia Lucia , Alterio Tommaso , Manti Lauretta , Aversa Tommaso , Calafiore Maria Rosa , Gitto Eloisa , Wasniewska Malgorzata

Background: Bilateral adrenal haemorrhage is rare in the neonates and more rarely does it manifest itself as acute adrenal insufficiency (AI). Cytomegalovirus (CMV)-associated AI is a well-known in adults with acquired immunodeficiency syndrome. AI is not a common finding in children with congenital CMV infection. We describe herein the case of a newborn infant presenting with adrenal hematomas (AH), AI and congenital CMV infection.Case report: A 20 day-...

hrp0084p3-1186 | Thyroid | ESPE2015

Is Transient Hypothyroidism in Preterm Infants True?

Vergaz Amparo Gonzalez , Cuartero Beatriz Garcia , Dehesa Rosa Sanchez , Escudero Veronica Sanchez , Carrasco Ersilia Gonzalez

Background: A second screening for congenital hypothyroidism between the 2nd and the 4th weeks of life in preterm infants is recommended in order to avoid false negative on the first screening. The incidence of transient hypothyroidism in this population is high.Objective and hypotheses: i) Analyse the utility of the second screening in our population of preterm infants. ii) Follow-up of those preterm infants with hypothyroidism.Me...

hrp0094p1-153 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Different faces of minipuberty in preterm twin girls

Pepe Giorgia , Calafiore Mariarosa , Velletri Maria Rosa , Mondello Isabella , Pomi Alessandra Li , Wasniewska Malgorzata ,

Background: minipuberty (MP) consists in a postnatal activation of hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically in both sexes during the first months of life. FSH and LH peak between 1 and 3 months, stimulating sex hormones secretion. In preterm infants, MP might lead to a stronger and more protracted hormonal stimulation, even if specific literature data are limited and not univocal. Immaturity of the hypothalamic feedback has been ...

hrp0082p2-d2-604 | Thyroid (1) | ESPE2014

Levothyroxine Requirement in Congenital Hypothyroidism: 12-year Longitudinal Study

Vigone Maria Cristina , Lapolla Rosa , Delvecchio Maurizio , Salerno Mariacarolina , Wasniewska Malgorzata , Popolo Pietro Pio , Mussa Alessandro , Tronconi Giulia Maria , Di Mase Raffaella , D'Acunzo Ida , Falcone Rosa Maria , Corrias Andrea , De Luca Filippo , Weber Giovanna , Cavallo Luciano , Faienza Maria Felicia

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

hrp0084p3-717 | Diabetes | ESPE2015

Seip-Berardinelli Syndrome in a Patient Referred by Low Weight Gain

Kopacek Cristiane , Beltrao Luciana Amorim , Guimaraes Victoria Bernardes , Trombetta Julia Santana , Lliguin Karen Lizeth Puma , Rosa Rosana Cardoso Manique , de Mattos Vinicius Freitas , Graziadio Carla , Zen Paulo Ricardo Gazzola , Rosa Rafael Fabiano Machado

Background: Seip-Berardinelli syndrome is a rare form of congenital lipodystrophy.Objective and hypothesis: To report a patient later diagnosed with Seip-Berardinelli syndrome referred initially for evaluation due to low weight gain.Population and/or methods: We performed the report of the case along with a literature review.Results: The patient was referred due to low weight gain. She was the second daughter...

hrp0095p1-60 | Diabetes and Insulin | ESPE2022

Prevalence of Autoimmunity in Relatives of Patients with Type 1 Diabetes: Time to The Clinical Onset of Diabetes and Associated Risk Factors

Marcelo Irene , Urrutia Ines , Calvo Begoña , Martinez Rosa , Saso Laura , Castaño Luis , Rica Itxaso , Group Collaborative

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...

hrp0095lb13 | Late Breaking | ESPE2022

Residual C-peptide secretion and glycemic control in pediatric patients with Diabetes Mellitus type 1

João Gaia Maria , Pedrosa Inês , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Introduction: Residual C-peptide secretion has been associated with less hypoglycemic events and lower glycemic variability in patients with Diabetes Mellitus type 1 (DM1), primarily in adults. The authors sought to evaluate the association between residual C-peptide secretion in pediatric patients with DM1 and glycemic control variables.Methods: Cross-sectional study conducted in a level II hospital, in DM1 patients you...

hrp0092p1-155 | Thyroid | ESPE2019

Congenital Hypothyroidism Newborn Profile After a Lower TSH Cutoff for Neonatal Screening in Southern Brazil

RIZZOTTO MARCIA INES BOFF , Kopacek Cristiane , de Castro Simone Martins , Ribeiro Sabliny Carreiro , Madi Jose Mauro , Garcia Rosa Maria Rahmi

Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, ...

hrp0089p3-p003 | Adrenals and HPA Axis P3 | ESPE2018

Nelson’s Syndrome after Bilateral Adrenalectomy for Cushing’s Disease in Pediatric Age – Report of a Case

Machado Catarina M , Leite Ana L , Sousa Ana , Almeida Lucia , Campos Rosa Armenia , Oliveira Maria Joao , Marques Jorge Sales

Introduction: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

hrp0086p1-p45 | Adrenal P1 | ESPE2016

Polymorphisms Analyze in Gene CYP21A2 Gene Associated with Congenital Adrenal Hyperplasia

Jorgens Prado Mayara , Maria Dornelles da Silva Claudia , Grandi Tarciana , Martins de Castro Simone , Kopacek Cristiane , Lucia Rosa Rossetti Maria

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...