hrp0098p2-197 | Growth and Syndromes | ESPE2024

Adult height of children born small for gestational age treated with growth hormone in southern Brazil

Eduardo Cruvinel Luís , Cardoso-Demartini Adriane , Kraemer Gabriela , Pereira Rosana , Nesi-Franca Suzana , Carvalho Julienne

Introduction: Children born small for gestational age (SGA) may present permanent short stature. Recombinant human Growth Hormone (rhGH) treatment is recommended for those without spontaneous catch-up growth, however it is not universally available in the Brazilian health care system. Response to treatment may be different across populations since there are many etiologies to SGA birth.Objective: to evaluate adult height...

hrp0089p2-p203 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

First Three Years of The Congenital Adrenal Hyperplasia Neonatal Screening Program of the State of Parana, Southern Brazil

Kraemer Gabriela , Nesi-Franca Suzana , Lacerda Luiz De , Lima Marcella , Carvalho Julienne , Domingos Mouseline , Furtado Ivy , Pereira Rosana

Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have ...

hrp0089p1-p137 | Fetal, Neonatal Endocrinology and Metabolism P1 | ESPE2018

Neonatal Screening Tests in Premature Newborns in Southern Brasil

Furtado Ivy Hulbert Falcao , Kraemer Gabriela Carvalho , de Lima Marcella Rabassi , Domingos Mousseline Torquato , Pereira Rosana Marques , Cat Monica Nunes Lima , De Lacerda Luiz , da Silva Regina Paula Guimaraes Vieira Cavalcante , Sarquis Ana Lucia Figueiredo , Nesi-Franca Suzana

Neonatal screening tests are used for the screening of genetic, endocrine and metabolic diseases. Preterm newborns have a higher false-positive and false-negative results in neonatal screening. The objective of this study was to estimate the prevalence of false-positive and false-negative results in the neonatal screening tests for phenylketonuria, congenital hypothyroidism, biotinidase deficiency and congenital adrenal hyperplasia (CAH) in preterm newborns in Curitiba, to ana...

hrp0097p2-74 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

A recessive heterozygous mutation in ABCC8 gene as the cause of severe congenital hyperinsulinism: a case report

Scheidemantel Aline , de Carvalho Kraemer Gabriela , Nesi-França Suzana , Ângela Ramires De Carvalho Julienne , Marcolla Bordin Pazzini Luiza , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , De Lacerda Luiz , Marques Pereira Rosana , Cardoso-Demartini Adriane

Case Report: A preterm boy was born at 35 weeks gestational age by cesarean section due to fetal macrossomia and polyhydramnios, weight 4980g (4.3 SDS, Intergrowth 21st), length 53cm (3.1 SDS), 1-min-Apgar 2. He needed resuscitation after birth, and his glycemia was 20 mg/dL. At the Neonatal Intensive Care Unit (NICU), he presented with severe hypoglycemia (10mg/dL) and required intravenous glucose infusion rate (GIR) 10mg/kg/min that increased progressively u...