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, ...

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 ...