hrp0086p2-p78 | Adrenal P2 | ESPE2016

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Justifying a Pediatric Case of ACTH-independent Cushing Syndrome (CS)

Capelo Liana , Vieira Stefania , Apolinario Elisa Cordeiro , Kopacek Cristiane

Background: CS is characterized by excess glucocorticoid excess, either endogenous or exogenous. In children younger than 7 years, the adrenal origin is the most common cause. From this age until adulthood predominates CushingÂ’s disease (central cause). We can divide CS in ACTH-dependent and independent according to laboratory findings. When ACTH-independent, etiologies are related to benign or malignant diseases of the adrenal or McCune Albright syndrome.<p class="ab...

hrp0086p2-p874 | Syndromes: Mechanisms and Management P2 | ESPE2016

Transverse Myelitis in Turner Syndrome

Kopacek Cristiane , Vieira Stefania , Capelo Liana , Quadros Fernanda , Kieling Renata , Da Silva Cleber Alvares

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that TurnerÂ’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

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, ...

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...

hrp0084p2-185 | Adrenals | ESPE2015

Severe Craniosynostosis Syndrome Associated to Salt Wasting Congenital Adrenal Hyperplasia

Beltrao Luciana Amorim , Apolinario Elisa Cordeiro , Costa Liana Capelo , Lozovei Yve , Castro Simone Martins , Rosa Rafael Fabiano Machado , Kopacek Cristiane

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

hrp0089p3-p318 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

SIG (Special Interest Group)-ENDOPED/RUTE (Brazil): Seven Years Integrating Pediatric Endocrinology Centers throughout the Country

Arrais Ricardo Fernando , Alves Cresio Aragao Dantas , Junior Gil Guerra , Castro Luiz Claudio Goncalves , Filho Geraldo Miranda Graca , Kopacek Cristiane , Damiani Durval , Junior Raphael Del Roio Liberatore , Punales Marcia Khaled

Introduction: Telemedicine, or the use of CIT (Communication and Information Technology) to deliver and/or share medical remote assistance and knowledge, is of paramount importance, mainly in large countries, with social and economic disparities, as Brazil, by means of teleconferences, webconferences, webcasts and use of a wide range of interactive technologies, helping activities of assistance and professional health education. One of the activities provided by our RUTE (Univ...

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...

hrp0084p3-1016 | Growth | ESPE2015

Autosomal Recessive Omodysplasia: A Rare Cause of Disproportionate Short Stature

Kopacek Cristiane , Beltrao Luciana Amorim , Guimaraes Victoria Bernardes , Trombetta Julia Santana , Lliguin Karen Lizeth Puma , de Souza Vinicius , Haubert Gessica , da Cunha Andre Campos , Zen Paulo Ricardo Gazzola , Rosa Rafael Fabiano Machado

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.Population and/or methods: We performed a description of the case along with a ...